Options
| Name | Description | Concepts |
|---|---|---|
| Male | Male | value |
| Female | Female | value |
| Intersex | Intersex | value |
| Unspecified sex | There is no sex specified on the pertinent document (e.g. birth certificate, pas | value |
| Parent | Parent | |
| Sibling | Sibling | |
| Half sibling | Half sibling | |
| Child | Child | |
| Grandparent | Grandparent | |
| Grandchild | Grandchild | |
| Cousin | Cousin | |
| Aunt or uncle | Aunt or uncle | |
| Niece or nephew | Niece or nephew | |
| Affected family member sex - Male | Male | value |
| Affected family member sex - Female | Female | value |
| Affected family member sex - Intersex | Intersex | value |
| Affected family member sex - Unspecified | There is no sex specified on the pertinent document (e.g. birth certificate, pas | value |
| Male intermediate family member | Male (e.g. paternal or fraternal) | |
| Female intermediate family member | Female (e.g. maternal or sororal) | |
| Intersex intermediate family member | Intersex (the intermediate family member in the relation is an intersex person) | |
| ICD-10 | ICD-10 | baseIri |
| ICD-11 | ICD-11 | |
| Family screening | The diagnosis was made as a result of family screening | |
| Newborn screening | The diagnosis was made as a result of a newborn screening programme | |
| Prenatal screening | The diagnosis was made as a result of prenatal screening | |
| No screening | The diagnosis was not made as a result of screening | |
| Homozygous deletion exon 7 | Homozygous deletion of exon 7 of SMN1 | |
| Compound heterozygous deletion exon 7 | Compound heterozygous deletion of exon 7 of SMN1 and a substitution (point mutat | |
| Compound heterozygous substitutions | Compound heterozygous for two substitutions (point mutations) in SMN1 | |
| Homozygous substitution | Homozygous for a single substitution (point mutation) in SMN1 (rare, may occur i | |
| RFLP | RFLP (Restriction Fragment Length Polymorphism) | value |
| HRM | HRM (High Resolution Melting) | value |
| MLPA | MLPA (Multiplex Ligation-dependent Probe Amplification) | value |
| DNA sequencing | DNA Sequencing | value |
| qrtPCR | qrtPCR (Quantitative Real-Time PCR) | value |
| ddPCR | ddPCR (Droplet Digital PCR) | value |
| Exon sequencing | Exon sequencing | value |
| RNA analysis | RNA analysis | value |
| Southern blotting | Southern blotting | value |
| FISH | FISH (Fluorescence in situ hybridization) | value |
| Prenatal | Prenatal | |
| At birth | At birth or up to two weeks of age | |
| Postnatal | Postnatal (two weeks of age or older) | |
| At disease onset | At disease onset (i.e., when the first symptoms of the disease manifested) | |
| Antenatal onset | Antenatal onset (before birth) | value |
| Congenital onset | Congenital onset (present at birth) | value |
| Neonatal onset | Neonatal onset (within the first 28 days of life) | value |
| Pediatric onset | Pediatric onset (between 28 days and 15 years) | value |
| Infantile onset | Infantile onset (between 28 days and 1 year) | value |
| Childhood onset | Childhood onset (between 1 and 5 years) | value |
| Juvenile onset | Juvenile onset (between 5 and 15 years) | value |
| Adult onset | Adult onset (16 years or later) | value |
| Young adult onset | Young adult onset (between 16 and 40 years) | value |
| Middle age onset | Middle age onset (between 40 and 60 years) | value |
| Late onset | Late onset (60 years or later) | value |
| Asymptomatic | Asymptomatic (the individual has never had symptoms of their diagnosed neuromusc | |
| SMA type - 0 | 0 | value |
| SMA type - 1 | 1 | value |
| SMA type - 2 | 2 | value |
| 3a | 3a | value |
| 3b | 3b | value |
| SMA type - 3 | 3 (subtype not known or not determined) | value |
| SMA type - 4 | 4 | value |
| Undetermined | 5q SMA of undetermined type | value |
| Clinician Global Impression of Severity - 1 | Not at all affected | |
| Clinician Global Impression of Severity - 2 | Borderline affected | |
| Clinician Global Impression of Severity - 3 | Mildly affected | |
| Clinician Global Impression of Severity - 4 | Moderately affected | |
| Clinician Global Impression of Severity - 5 | Markedly affected | |
| Clinician Global Impression of Severity - 6 | Severely affected | |
| Clinician Global Impression of Severity - 7 | Among the most extremely affected individuals | |
| Clinician Global Impression of Improvement - 1 | Very much improved | |
| Clinician Global Impression of Improvement - 2 | Much improved | |
| Clinician Global Impression of Improvement - 3 | Minimally improved | |
| Clinician Global Impression of Improvement - 4 | No change | |
| Clinician Global Impression of Improvement - 5 | Minimally worse | |
| Clinician Global Impression of Improvement - 6 | Much worse | |
| Clinician Global Impression of Improvement - 7 | Very much worse | |
| Standing height | Standing height | |
| Recumbent length | Recumbent length | |
| Arm span | Arm span | |
| Ulnar length | Ulnar length | |
| Hold head without support | Hold head up without support | |
| Roll onto side | Roll onto side | |
| Sit without support | Sit without support | value |
| Crawl | Crawl on hands and knees | |
| Stand with assistance | Stand with assistance | |
| Transfer | Transfer from bed to chair | |
| Stand without assistance | Stand without assistance | value |
| Get up from chair | Get up from chair | |
| Rise from floor | Rise from floor without assistance | |
| Walk with assistance | Walk with assistance | |
| Walk without assistance | Walk without assistance | value |
| Walk 10 metres without assistance | Walk 10 metres without assistance | |
| Climb stairs | Climb stairs | |
| Run | Run | |
| Useful function of hands | Useful function of hands | value |
| Reach overhead in a sitting position | Reach overhead in a sitting position | |
| Raise hands to mouth in a sitting position | Raise hands to mouth in a sitting position | |
| Motor ability status - Currently | This is currently the case | |
| Motor ability status - Previously | This has previously been the case, but is not currently | |
| Motor ability status - Never | This has never been the case, neither previously nor currently | |
| Motor ability status - Sometime | This has been the case at some time, but it is unknown whether it is currently t | |
| Motor ability status - Not currently | This is currently not the case, but it is unknown whether it has previously been | |
| Wheelchair usage - Currently | This is currently the case | |
| Wheelchair usage - Previously | This has previously been the case, but is not currently | |
| Wheelchair usage - Never | This has never been the case, neither previously nor currently | |
| Wheelchair usage - Sometime | This has been the case at some time, but it is unknown whether it is currently t | |
| Wheelchair usage - Not currently | This is currently not the case, but it is unknown whether it has previously been | |
| Wheelchair usage frequency - Part-time | Part-time (the individual is sometimes able to get around without a wheelchair o | |
| Wheelchair usage frequency - Full-time | Full-time (the individual is unable to get around at all without a wheelchair or | |
| Feeding tube usage - Currently | This is currently the case | |
| Feeding tube usage - Previously | This has previously been the case, but is not currently | |
| Feeding tube usage - Never | This has never been the case, neither previously nor currently | |
| Feeding tube usage - Sometime | This has been the case at some time, but it is unknown whether it is currently t | |
| Feeding tube usage - Not currently | This is currently not the case, but it is unknown whether it has previously been | |
| Exclusive | The individual is or was exclusively fed by a tube | value |
| Supplementary | The individual is or was supplementarily fed by a tube, e.g. for fluids | |
| Invasive ventilation usage - Currently | This is currently the case | |
| Invasive ventilation usage - Previously | This has previously been the case, but is not currently | |
| Invasive ventilation usage - Never | This has never been the case, neither previously nor currently | |
| Invasive ventilation usage - Sometime | This has been the case at some time, but it is unknown whether it is currently t | |
| Invasive ventilation usage - Not currently | This is currently not the case, but it is unknown whether it has previously been | |
| Ventilation duration - Full-time | Full-time (the individual uses ventilation of the respective type for 16 hours o | |
| Part-time awake and sleeping | Part-time, awake and sleeping (the individual uses ventilation of the respective | |
| Part-time sleeping | Part-time, only while sleeping (the individual uses ventilation of the respectiv | |
| Ventilation duration - Part-time | Part-time (the individual uses ventilation of the respective type with a total d | |
| Non-invasive ventilation usage - Currently | This is currently the case | |
| Non-invasive ventilation usage - Previously | This has previously been the case, but is not currently | |
| Non-invasive ventilation usage - Never | This has never been the case, neither previously nor currently | |
| Non-invasive ventilation usage - Sometime | This has been the case at some time, but it is unknown whether it is currently t | |
| Non-invasive ventilation usage - Not currently | This is currently not the case, but it is unknown whether it has previously been | |
| Airway clearance assistance - Daily | Daily (used once or more in each 24-hour period) | |
| Airway clearance assistance - Weekly | Weekly (used less frequently than daily, but used once or more in each 7-day per | |
| Airway clearance assistance - Occasionally | Occasionally (used less frequently than weekly) | |
| Airway clearance assistance - Never | Never | |
| Ongoing | The individual has been receiving the therapy as of the date specified in `Ongoi | |
| Stopped | The individual has stopped continuously receiving the therapy since the date spe | |
| Funding | Insurance coverage/funding | |
| Availability | Availability | |
| Side effects from procedure | Side effects from the procedure | |
| Side effects from drug | Side effects from the drug | |
| Scoliosis | Scoliosis | |
| Insufficient benefit | Insufficient benefit | |
| Insufficient initial improvement | Insufficient initial improvement | |
| Loss of response | Loss of response | |
| Elective choice | Elective choice | |
| Vector genomes per kilogram body weight | vector genomes per kilogram (vg/kg) of body weight | |
| Milligrams per kilogram body weight | milligrams per kilogram (mg/kg) of body weight | |
| Milligrams | milligrams | |
| Intrathecal | Intrathecal injection | |
| Intravenous | Intravenous | |
| Oral | Oral or via feeding tube | |
| Illness | Illness | |
| Access problem | Access problem (e.g. funding, institutional/organisational issues) | |
| Scoliosis surgery | Scoliosis surgery | |
| Non-compliance | Non-compliance | |
| prednisone oral | prednisone (oral) | |
| prednisolone oral | prednisolone (oral) | |
| deflazacort oral | deflazacort (oral) | |
| <= 1:50 | Antibody titre lower than or equal to 1:50 | |
| > 1:50 | Antibody titre greater than 1:50 | |
| Vitamin D | Vitamin D | |
| Calcium | Calcium | |
| Bisphosphonates | Bisphosphonates | |
| Biphosphonate | Biphosphonate | |
| Bone health | Drugs for bone health, not otherwise specified | |
| Gastroesophageal reflux | Drugs for gastroesophageal reflux | |
| Constipation | Drugs for constipation | |
| Gastrointestinal | Gastrointestinal drugs, not otherwise specified | |
| Antibiotics | Antibiotics | |
| Anticholinergic drugs | Anticholinergic drugs | |
| Influenza immunizations | Annual influenza immunizations | |
| Pneumococcal immunizations | Annual pneumococcal immunizations | |
| Respiratory | Respiratory drugs, not otherwise specified | |
| Creatine | Creatine | |
| Acetyl-L-carnitine | Acetyl-L-carnitine | |
| Phenylbutyrate | Phenylbutyrate | |
| Gabapentin | Gabapentin | |
| Thyrotropin-releasing hormone | Thyrotropin-releasing hormone | |
| Hydroxyurea | Hydroxyurea | |
| Valproate | Valproate | |
| Albuterol | Albuterol | |
| Testosterone | Testosterone | |
| Supplement | Supplement, not otherwise specified | |
| Vitamin D | Vitamin D | |
| Calcium | Calcium | |
| Bisphosphonates | Bisphosphonates | |
| Biphosphonate | Biphosphonate | |
| Bone health | Drugs for bone health, not otherwise specified | |
| Gastroesophageal reflux | Drugs for gastroesophageal reflux | |
| Constipation | Drugs for constipation | |
| Gastrointestinal | Gastrointestinal drugs, not otherwise specified | |
| Antibiotics | Antibiotics | |
| Anticholinergic drugs | Anticholinergic drugs | |
| Influenza immunizations | Annual influenza immunizations | |
| Pneumococcal immunizations | Annual pneumococcal immunizations | |
| Respiratory | Respiratory drugs, not otherwise specified | |
| Creatine | Creatine | |
| Acetyl-L-carnitine | Acetyl-L-carnitine | |
| Phenylbutyrate | Phenylbutyrate | |
| Gabapentin | Gabapentin | |
| Thyrotropin-releasing hormone | Thyrotropin-releasing hormone | |
| Hydroxyurea | Hydroxyurea | |
| Valproate | Valproate | |
| Albuterol | Albuterol | |
| Testosterone | Testosterone | |
| Supplement | Supplement, not otherwise specified | |
| Physiotherapy | Physiotherapy sessions (e.g. stretches) | |
| Respiratory physiotherapy | Respiratory physiotherapy sessions | |
| Massage | Massage | |
| Home programme | Home programme (e.g. stretches/exercises) | |
| Hydrotherapy | Hydrotherapy/water-based activity | |
| Contracture management using orthotics | Management of contractures using orthotics (e.g. ankle foot orthoses) | |
| Spinal brace | Spinal brace | |
| Occupational therapy | Occupational therapy sessions, or input/equipment for home | |
| Speech therapy | Speech and language therapy sessions | |
| Planned | Planned (admission was scheduled in advance, e.g. planned surgery, scan, or admi | |
| Acute | Acute (admission was in response to a “sudden, often unexpected, urgent or emerg | |
| ICD-10 | ICD-10 | |
| ICD-11 | ICD-11 | |
| MedDRA | MedDRA | |
| G-tube placement | Placement of g-tube | |
| Sleep study | Sleep study | |
| Scoliosis surgery | Scoliosis surgery | |
| Hip surgery | Hip surgery | |
| Contracture surgery | Surgical treatment of contractures | |
| Disease-modifying therapy | Administration of disease-modifying therapy | |
| Checkup | Routine checkup | |
| ICD-10 | ICD-10 | |
| ICD-11 | ICD-11 | |
| MedDRA | MedDRA | |
| Clinical trial participation - Currently | This is currently the case | |
| Clinical trial participation - Previously | This has previously been the case, but is not currently | |
| Clinical trial participation - Never | This has never been the case, neither previously nor currently | |
| Clinical trial participation - Sometime | This has been the case at some time, but it is unknown whether it is currently t | |
| Clinical trial participation - Not currently | This is currently not the case, but it is unknown whether it has previously been | |
| Start position | Inability to attain start position or disease progression | |
| Illness | Injury or illness | |
| Comprehension | Inability to follow or understand directions | |
| Behaviour | Refusal, attention or behaviour issue | |
| Fatigue | Fatigue | |
| Pain | Pain or muscle cramp | |
| Technical issue | Equipment or software issue | |
| 10MWT | 10MWT (10-Metre Walk Test), provide time in seconds | |
| 100MTT | 100MTT (100-Meter Timed Test), provide time in seconds | |
| 4SC | 4SC (4-stair climb), provide time in seconds | |
| 6MWT | 6MWT (6-Minute Walk Test), provide distance in metres | |
| 9HPT left hand | 9HPT (9-Hole Peg Test), provide time in seconds for left hand | |
| 9HPT right hand | 9HPT (9-Hole Peg Test), provide time in seconds for right hand | |
| ACTIVE | ACTIVE (Ability Captured Through Interactive Video Evaluation), provide scaled s | |
| ACTIVE workspace volume | ACTIVE (Ability Captured Through Interactive Video Evaluation), provide workspac | |
| AIMS | AIMS (Alberta Infant Motor Scale), provide total score between 0 and 58 | |
| BBT left hand | BBT (Box and Blocks Test), provide number of blocks for left hand | |
| BBT right hand | BBT (Box and Blocks Test), provide number of blocks for right hand | |
| Brooke | Brooke Scale of Upper Extremity Function, provide grade between 1 and 6 | |
| BSID-III composite motor score | BSID-III (Bayley Scales of Infant and Toddler Development), provide composite mo | |
| BSID-III composite motor percentile | BSID-III (Bayley Scales of Infant and Toddler Development), provide composite mo | |
| CHOP-INTEND | CHOP-INTEND (Children's Hospital of Philadelphia Infant Test of Neuromuscular Di | |
| EK2 | EK2 (Egen Klassification 2), provide score between 0 and 51 | |
| ES9HPT left hand | ES9HPT (Endurance Shuttle Nine Hole Peg Test), provide time in seconds for left | |
| ES9HPT right hand | ES9HPT (Endurance Shuttle Nine Hole Peg Test), provide time in seconds for right | |
| ESBBT left hand | ESBBT (Endurance Shuttle Box and Blocks Test), provide number of blocks for left | |
| ESBBT right hand | ESBBT (Endurance Shuttle Box and Blocks Test), provide number of blocks for righ | |
| Grip strength left hand | Grip strength measured using hand dynamometer, provide maximum strength of left | |
| Grip strength right hand | Grip strength measured using hand dynamometer, provide maximum strength of right | |
| HFMS | HFMS (Hammersmith Functional Motor Scale), provide total score between 0 and 40 | |
| HFMS-E | HFMS-E (Hammersmith Functional Motor Scale Expanded), provide total score betwee | |
| HINE | HINE Section 2 (Posture) (Hammersmith Infant Neurological Examination), provide | |
| MFM-20 | MFM-20 total score (Motor Function Measurement), provide total score as percenta | |
| MFM-20 D1 | MFM-20 D1 (Motor Function Measurement), provide domain score as percentage betwe | |
| MFM-20 D2 | MFM-20 D2 (Motor Function Measurement), provide domain score as percentage betwe | |
| MFM-20 D3 | MFM-20 D3 (Motor Function Measurement), provide domain score as percentage betwe | |
| MFM-32 | MFM-32 total score (Motor Function Measurement), provide total score as percenta | |
| MFM-32 D1 | MFM-32 D1 (Motor Function Measurement), provide domain score as percentage betwe | |
| MFM-32 D2 | MFM-32 D2 (Motor Function Measurement), provide domain score as percentage betwe | |
| MFM-32 D3 | MFM-32 D3 (Motor Function Measurement), provide domain score as percentage betwe | |
| NSAA | NSAA (North Star Ambulatory Assessment), provide score between 0 and 34 | |
| NSAD | NSAD (North Star Assessment for Limb Girdle Type Muscular Dystrophies), provide | |
| Pincer strength left hand | Pincer strength (fingertip to thumbtip) measured using pinch gauge, provide maxi | |
| Pincer strength right hand | Pincer strength (fingertip to thumbtip) measured using pinch gauge, provide maxi | |
| PUL2 | PUL2 (Performance of Upper Limb module for DMD 2.0), provide score between 0 and | |
| r9HPT left hand | r9HPT (Repeated Nine-Hole Peg Test), provide average time of five rounds in seco | |
| r9HPT right hand | r9HPT (Repeated Nine-Hole Peg Test), provide average time of five rounds in seco | |
| Revised Brooke left side | Revised Brooke Scale of Upper Extremity Function, provide score between 0 and 6 | |
| Revised Brooke right side | Revised Brooke Scale of Upper Extremity Function, provide score between 0 and 6 | |
| RFF | RFF (Time to rise from the floor), provide time in seconds | |
| RHS | RHS (Revised Hammersmith Scale), provide total score between 0 and 69 | |
| RULM left side | RULM (Revised Upper Limb Module), provide score between 0 and 37 for left side | |
| RULM right side | RULM (Revised Upper Limb Module), provide score between 0 and 37 for right side | |
| RULM unknown side | RULM (Revised Upper Limb Module), provide score between 0 and 37 | |
| TIMPSI | TIMPSI (Test of Infant Motor Performance Screening Items), provide score between | |
| TUG | TUG (Timed Up and Go), provide time in seconds | |
| Vignos | Vignos functional rating scale, provide score between 1 and 10 | |
| WHO Motor Milestones | WHO (World Health Organisation) Motor Milestones (observed in clinic), provide s | |
| Left | Left side | value |
| Right | Right side | value |
| Ambidextrous | Ambidextrous | |
| Not at all | Not at all affected | |
| Mildly | Mildly affected | |
| Moderately | Moderately affected | |
| Severely | Severely affected | |
| Patient Global Impression of Improvement - 1 | Very much improved | |
| Patient Global Impression of Improvement - 2 | Much improved | |
| Patient Global Impression of Improvement - 3 | Minimally improved | |
| Patient Global Impression of Improvement - 4 | No change | |
| Patient Global Impression of Improvement - 5 | Minimally worse | |
| Patient Global Impression of Improvement - 6 | Much worse | |
| Patient Global Impression of Improvement - 7 | Very much worse | |
| ACEND | ACEND (Assessment of Caregiver Experience with Neuromuscular Disease) | |
| ACTIVLIM | ACTIVLIM (Measurement of Activity Limitations), provide score between 0 and 36 | |
| CarerQol7D | CarerQol7D | |
| DISABKIDS | DISABKIDS (Measurement of Quality of Life and Level of Distress) | |
| EQ-5D-5L state | EQ-5D-5L health state, provide 5-digit code | |
| EQ-5D-5L VAS | EQ-5D-5L VAS, provide score between 0 and 100 | |
| FSS | FSS (Fatigue Severity Scale) | |
| INQoL | INQoL (Individualised Neuromuscular Quality of Life Questionnaires) 2.0, provide | |
| IPAQ category | IPAQ (International Physical Activity Questionnaire), provide 1 for low, 2 for m | |
| IPAQ score | IPAQ (International Physical Activity Questionnaire), provide MET-minutes per we | |
| KIDSCREEN-52 | KIDSCREEN-52 | |
| PEDI-CAT | PEDI-CAT | |
| PedsQL 3.0 Core Module | PedsQL 3.0 Core Module, provide score between 0 and 92 | |
| PedsQL 4.0 Generic Core Scales | PedsQL 4.0 Generic Core Scales | |
| PedsQL 3.0 Neurosmuscular Module | PedsQL 3.0 Neurosmuscular Module, provide score between 0 and 100 | |
| PedsQL Multidimensional Fatigue Scale | PedsQL Multidimensional Fatigue Scale, provide score between 0 and 72 | |
| PedsQL 3.0 Duchenne Muscular Dystrophy Module | PedsQL 3.0 Duchenne Muscular Dystrophy Module | |
| PODCI | PODCI (Pediatric Outcomes Data Collection Instrument), provide score between 0 a | |
| PROMIS | PROMIS (Patient-Reported Outcomes Measurement Information System) | |
| PROMIS mobility adult | PROMIS (Patient-Reported Outcomes Measurement Information System) mobility measu | |
| PROMIS mobility child | PROMIS (Patient-Reported Outcomes Measurement Information System) mobility measu | |
| PROMIS upper extremity adult | PROMIS (Patient-Reported Outcomes Measurement Information System) upper extremit | |
| PROMIS upper extremity child | PROMIS (Patient-Reported Outcomes Measurement Information System) upper extremit | |
| SF-36v2 | SF-36v2 Health Survey, provide score between 0 and 100 | |
| SMA FRS | SMA FRS (SMA Functional Rating Scale) | |
| SMA HI | SMA HI (SMA Health Index) | |
| QoL-gNMD | QoL-gNMD (Quality of Life in Genetic Neuromuscular Diseases), provide score betw | |
| Genetic | Genetic/molecular test | |
| Physical examination | Physical examination | |
| Muscle biopsy | Muscle biopsy | |
| Biomarkers | Biomarkers | |
| DMD | Duchenne muscular dystrophy | value |
| BMD | Becker muscular dystrophy | value |
| Arthrodesis | Arthrodesis | |
| Growing rods | Growing rods | |
| Physiotherapist | Physiotherapist | |
| Medical doctor | Medical doctor | |
| Nurse | Nurse | |
| Other | Other | |
| Face-to-face | Face-to-face | |
| Live audio | Live audio (e.g. telephone) | |
| Live video | Live video | |
| Video recording | Video recording | |
| Supine | Supine (lying on the back) | value |
| Sitting | Sitting | value |
| Standing | Standing | value |
| LGMD D1 | LGMD D1 DNAJB6-related (formerly LGMD 1D) | value |
| LGMD D2 | LGMD D2 TNP03-related (formerly LGMD 1F) | value |
| LGMD D3 | LGMD D3 HNRNPDL-related (formerly LGMD 1G) | value |
| LGMD D4 | LGMD D4 calpain3-related (formerly LGMD 1I) | value |
| LGMD D5 | LGMD D5 collagen 6-related (Bethlem myopathy dominant) | value |
| LGMD R1 | LGMD R1 calpain3-related (formerly LGMD 2A) | value |
| LGMD R2 | LGMD R2 dysferlin-related (formerly LGMD 2B) | value |
| LGMD R3 | LGMD R3 α-sarcoglycan-related (formerly LGMD 2D) | value |
| LGMD R4 | LGMD R4 β-sarcoglycan-related (formerly LGMD 2E) | value |
| LGMD R5 | LGMD R5 γ-sarcoglycan-related (formerly LGMD 2C) | value |
| LGMD R6 | LGMD R6 δ-sarcoglycan-related (formerly LGMD 2F) | value |
| LGMD R7 | LGMD R7 telethonin-related (formerly LGMD 2G) | value |
| LGMD R8 | LGMD R8 TRIM32-related (formerly LGMD 2H) | value |
| LGMD R9 | LGMD R9 FKRP-related (formerly LGMD 2I) | value |
| LGMD R10 | LGMD R10 titin-related (formerly LGMD 2J) | value |
| LGMD R11 | LGMD R11 POMT1-related (formerly LGMD 2K) | value |
| LGMD R12 | LGMD R12 anoctamin5-related (formerly LGMD 2L) | value |
| LGMD R13 | LGMD R13 Fukutin-related (formerly LGMD 2M) | value |
| LGMD R14 | LGMD R14 POMT2-related (formerly LGMD 2N) | value |
| LGMD R15 | LGMD R15 POMGNT1-related (formerly LGMD 2O) | value |
| LGMD R16 | LGMD R16 α-dystroglycan-related (formerly LGMD 2P) | value |
| LGMD R17 | LGMD R17 plectin-related (formerly LGMD 2Q) | value |
| LGMD R18 | LGMD R18 TRAPPC11-related (formerly LGMD 2S) | value |
| LGMD R19 | LGMD R19 GMPPB-related (formerly LGMD 2T) | value |
| LGMD R20 | LGMD R20 ISPD-related (formerly LGMD 2U) | value |
| LGMD R21 | LGMD R21 POGLUT1-related (formerly LGMD 2Z) | value |
| LGMD R22 | LGMD R22 collagen 6-related (Bethlem myopathy recessive) | value |
| LGMD R23 | LGMD R23 laminin α2-related (formerly Laminin α2-related muscular dystrophy) | value |
| LGMD R24 | LGMD R24 POMGNT2-related (formerly POMGNT2-related muscular dystrophy) | value |
| Muscle weakness | Muscle weakness | value |
| Falls | Falls | value |
| Muscle fatigue | Muscle fatigue | value |
| Motor delay | Motor delay | value |
| Myalgia | Myalgia | value |
| Dysphagia | Dysphagia | value |
| Respiratory distress | Respiratory distress | value |
| Proximal upper limb muscle weakness | Proximal upper limb muscle weakness | value |
| Proximal lower limb muscle weakness | Proximal lower limb muscle weakness | value |
| Distal upper limb muscle weakness | Distal upper limb muscle weakness | value |
| Distal lower limb muscle weakness | Distal lower limb muscle weakness | value |
| Axial muscle weakness | Axial muscle weakness | value |
| Facial muscle weakness | Facial muscle weakness | value |
| Limb-girdle muscle weakness | Limb-girdle muscle weakness | value |
| Distal muscle weakness | Distal muscle weakness | value |
| Axial muscle weakness | Axial muscle weakness | value |
| Cardiomyopathy | Cardiomyopathy | value |
| Respiratory insufficiency due to muscle weakness | Respiratory insufficiency due to muscle weakness | value |
| Cognitive impairment | Cognitive impairment | value |
| Asymptomatic | Asymptomatic | |
| Muscle weakness | Muscle weakness | value |
| Falls | Falls | value |
| Muscle fatigue | Muscle fatigue | value |
| Motor delay | Motor delay | value |
| Myalgia | Myalgia | value |
| Dysphagia | Dysphagia | value |
| Respiratory distress | Respiratory distress | value |
| Palpitations | Palpitations | |
| Chest pain | Chest pain | |
| Breathlessness | Breathlessness | |
| Respiratory distress | Respiratory distress | value |
| Recurrent lower respiratory tract infections | Recurrent lower respiratory tract infections | value |
| Nocturnal hypoventilation | Nocturnal hypoventilation | value |
| Muscle weakness | Muscle weakness | value |
| Flexion contracture | Flexion contracture | value |
| Joint laxity | Joint laxity | value |
| Skeletal muscle atrophy | Skeletal muscle atrophy | value |
| Skeletal muscle hypertrophy | Skeletal muscle hypertrophy | value |
| Percussion-induced rapid rolling muscle contractions | Percussion-induced rapid rolling muscle contractions | value |
| Scapular winging | Scapular winging | value |
| Abnormal eye movements | Abnormal eye movements | value |
| Ptosis | Ptosis | value |
| Spinal rigidity | Spinal rigidity | value |
| Steppage gait | Steppage gait | value |
| Waddling gait | Waddling gait | value |
| Tip-toe gait | Tip-toe gait | value |
| Abnormality of the skin | Abnormality of the skin | value |
| Scoliosis | Scoliosis | value |
| Hypotonia | Hypotonia | value |
| Non-elevated creatine kinase | Non-elevated creatine kinase (up to the upper reference limit) | |
| Elevated creatine kinase | Elevated creatine kinase (above the upper reference limit) | value |
| Mildly elevated creatine kinase | Mildly elevated creatine kinase (between 1x and 4x the upper reference limit) | value |
| Highly elevated creatine kinase | Highly elevated creatine kinase (between 4x and 50x the upper reference limit) | value |
| Extremely elevated creatine kinase | Extremely elevated creatine kinase (above 50x the upper reference limit) | value |
| Upper arm | Upper arm | |
| Lower arm | Lower arm | |
| Upper leg | Upper leg | |
| Lower leg | Lower leg | |
| Hand | Hand | |
| Finger | Finger(s) | |
| Pelvis | Pelvis | |
| Ankle | Ankle | |
| Foot | Foot | |
| Toe | Toe(s) | |
| Skull | Skull | |
| Jaw | Jaw | |
| Rib | Rib(s) | |
| Scapula | Scapula | |
| Clavicle | Clavicle | |
| Echocardiography | Echocardiography | value |
| Cardiac MRI | Cardiac MRI | value |
| Corticosteroid usage - Currently | This is currently the case | |
| Corticosteroid usage - Previously | This has previously been the case, but is not currently | |
| Corticosteroid usage - Never | This has never been the case, neither previously nor currently | |
| Corticosteroid usage - Sometime | This has been the case at some time, but it is unknown whether it is currently t | |
| Corticosteroid usage - Not currently | This is currently not the case, but it is unknown whether it has previously been | |
| prednisone oral | prednisone (oral) | |
| prednisolone oral | prednisolone (oral) | |
| deflazacort oral | deflazacort (oral) | |
| Corticosteroid administration frequency - Daily | Daily | |
| Intermittent 10 days | 10 days on/10 days off | |
| Weekend dosing | Weekend dosing | |
| Side effects | Side effects | |
| Elective choice | Elective choice | |
| Insufficient benefit | Insufficient benefit | |
| Normal | Normal | |
| Abnormal but not clinically relevant | Abnormal but not requiring treatment or monitoring | value |
| Abnormal and clinically relevant | Abnormal and requiring treatment or monitoring | value |
| Abnormal with unknown clinical relevance | Abnormal but it is unknown whether treatment or monitoring is required | value |
| Suction | Suction | |
| Bag valve mask | Bag valve mask (Ambu bag) | |
| Intrapulmonary percussive ventilation | Intrapulmonary percussive ventilation (IPV) | |
| Mechanical insufflation-exsufflation | Mechanical insufflation-exsufflation (CoughAssist) | |
| Angiotensin receptor blockers | Angiotensin receptor blockers | value |
| ACE inhibitors | ACE inhibitors | value |
| Beta blockers | Beta blockers | value |
| Eplerenone | Eplerenone | value |
| Spironolactone | Spironolactone | value |
| Other diuretics | Diuretics other than eplerenone and spironolactone | value |
| Pacemaker | Pacemaker | value |
| Implantable cardioverter-defibrillator | Implantable cardioverter-defibrillator (ICD) | value |
| Cardiac treatment usage - Currently | This is currently the case | |
| Cardiac treatment usage - Previously | This has previously been the case, but is not currently | |
| Cardiac treatment usage - Never | This has never been the case, neither previously nor currently | |
| Cardiac treatment usage - Sometime | This has been the case at some time, but it is unknown whether it is currently t | |
| Cardiac treatment usage - Not currently | This is currently not the case, but it is unknown whether it has previously been | |
| Pathogenic | Pathogenic | |
| Likely pathogenic | Likely pathogenic | |
| Uncertain significance | Uncertain significance | |
| Likely benign | Likely benign | |
| Benign | Benign | |
| Scoliosis surgery | Scoliosis surgery | |
| Achilles tendon lengthening | Achilles tendon lengthening | |
| Scapular fixation | Scapular fixation | |
| Ankle osteotomy | Ankle osteotomy | |
| Non-ankle osteotomy | Osteotomy other than ankle | |
| Pes cavus surgery | Pes cavus surgery | |
| Claw toes surgery | Claw toes surgery | |
| Cobb angle above 30 | Cobb angle greater than 30° | value |
| Scoliosis diagnosed | Scoliosis diagnosed, Cobb angle unknown | value |
| Scoliosis not diagnosed | Scoliosis not diagnosed or Cobb angle lower than or equal to 30° | |
| Muscle weakness | Muscle weakness | value |
| Flexion contracture | Flexion contracture | value |
| Joint laxity | Joint laxity | value |
| Skeletal muscle atrophy | Skeletal muscle atrophy | value |
| Skeletal muscle hypertrophy | Skeletal muscle hypertrophy | value |
| Percussion-induced rapid rolling muscle contractions | Percussion-induced rapid rolling muscle contractions | value |
| Scapular winging | Scapular winging | value |
| Abnormal eye movements | Abnormal eye movements | value |
| Ptosis | Ptosis | value |
| Spinal rigidity | Spinal rigidity | value |
| Steppage gait | Steppage gait | value |
| Waddling gait | Waddling gait | value |
| Tip-toe gait | Tip-toe gait | value |
| Abnormality of the skin | Abnormality of the skin | value |
| Scoliosis | Scoliosis | value |
| Hypotonia | Hypotonia | value |
| Diagnostic | Diagnostic | |
| Clinical research | Clinical research | |
| Muscle weakness | Muscle weakness | value |
| Falls | Falls | value |
| Muscle fatigue | Muscle fatigue | value |
| Motor delay | Motor delay | value |
| Myalgia | Myalgia | value |
| Dysphagia | Dysphagia | value |
| Respiratory distress | Respiratory distress | value |
| Prenatal | Prenatal | |
| At birth | At birth or up to two weeks of age | |
| Postnatal | Postnatal (two weeks of age or older) | |
| At disease onset | At disease onset (i.e., when the first symptoms of the disease manifested) | |
| Antenatal onset | Antenatal onset (before birth) | value |
| Congenital onset | Congenital onset (present at birth) | value |
| Neonatal onset | Neonatal onset (within the first 28 days of life) | value |
| Pediatric onset | Pediatric onset (between 28 days and 15 years) | value |
| Infantile onset | Infantile onset (between 28 days and 1 year) | value |
| Childhood onset | Childhood onset (between 1 and 5 years) | value |
| Juvenile onset | Juvenile onset (between 5 and 15 years) | value |
| Adult onset | Adult onset (16 years or later) | value |
| Young adult onset | Young adult onset (between 16 and 40 years) | value |
| Middle age onset | Middle age onset (between 40 and 60 years) | value |
| Late onset | Late onset (60 years or later) | value |
| Asymptomatic | Asymptomatic (the individual has never had symptoms of their diagnosed neuromusc | |
| Confirmed diagnosis | At least one family member with a confirmed diagnosis is known | |
| Tentative diagnosis | At least one family member with a tentative dianosis is known, but nobody with a | |
| Is family member affected with confirmation - No | No affected family member is known | |
| Genetic confirmation alternative - Yes | The individual has a genetic disease which has been confirmed by genetic testing | |
| Genetic confirmation alternative - No | The individual has a suspected genetic disease, but the diagnosis has not (yet) | |
| Carrier | The individual is heterozygous for a recessive genetic disease; either the indiv | |
| Genetic confirmation alternative - Not applicable | The individual has an acquired disease, or no diagnosis has been established yet | |
| Comorbidity status - Currently | This is currently the case | |
| Comorbidity status - Previously | This has previously been the case, but is not currently | |
| Comorbidity status - Never | This has never been the case, neither previously nor currently | |
| Comorbidity status - Sometime | This has been the case at some time, but it is unknown whether it is currently t | |
| Comorbidity status - Not currently | This is currently not the case, but it is unknown whether it has previously been | |
| DMT received alternative - Yes | The individual has received an approved disease-modifying therapy | |
| DMT received alternative - No | The individual has never received a disease-modifying therapy, even though there | |
| DMT received alternative - Not applicable | There exists no approved disease-modifying therapy for the individual's neuromus | |
| Congenital-onset myotonic dystrophy type 1 | Myotonic dystrophy type 1 with an onset at birth or within the first 28 days of | value |
| Childhood-onset myotonic dystrophy type 1 | Myotonic dystrophy type 1 with an onset after the first 28 days of life and befo | value, value |
| Adult-onset myotonic dystrophy type 1 | Myotonic dystrophy type 1 with an onset at or after the age of 16 and before the | value |
| Late-onset myotonic dystrophy type 1 | Myotonic dystrophy type 1 with an onset at or after the age of 60. This correspo | value |
| Pediatric-onset or adult-onset myotonic dystrophy type 1 | Myotonic dystrophy type 1 with an onset after the first 28 days of life. This op | value |
| Mexiletine | Mexiletine | value |
| Phenytoin | Phenytoin | value |
| Carbamazepine | Carbamazepine | value |
| Lamotrigine | Lamotrigine | value |
| Other myotonia medication | Myotonia medication other than mexiletine, phenytoin, carbamazepine, or lamotrig | |
| Modafinil | Modafinil | value |
| Other fatigue medication | Other fatigue medication | |
| Unknown cardiac implant | The individual has used a cardiac implant, but it is unknown which type | value |
| Hand opening time evaluated by untrained rater | The hand opening time (HOT) was evaluated by a person who does not have any form | |
| Hand opening time evaluated by trained rater | The hand opening time (HOT) was evaluated by a person who has received formal tr | |
| Video hand opening time evaluated by trained rater | The hand opening time was evaluated manually by a trained rater based on a video | |
| Video hand opening time evaluated automatically | The hand opening time was evaluated based on a video recording (vHOT) automatica | |
| Bladder cancer | value | |
| Bowel cancer | value | |
| Gastric cancer | value | |
| Hepatic cancer | value | |
| Kidney cancer | value | |
| Lung cancer | value | |
| Lymphoma | value | |
| Cancer of unknown primary | value | |
| Ovarian cancer | value | |
| Pancreatic cancer | value | |
| Prostate cancer | value | |
| Skin cancer | value | |
| Tongue cancer | value | |
| Uterine cancer | value | |
| Vulvar cancer | value | |
| Other malignancy location | ||
| Breast cancer | value | |
| Leukaemia | value | |
| Black ethnicity | value | |
| Caucasian ethnicity | value | |
| Asian ethnicity | value | |
| Mixed ethnicity | value | |
| Other ethnicity | ||
| Maternal transmission | value | |
| Paternal transmission | value | |
| Kilograms | value | |
| Pounds | Pounds (unit of mass) | value |
| Newtons | Newtons (unit of force) | value |