ORPHA:98911
Distal myotilinopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Elderly
- Status
- active
A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal myotilinopathy | |
| fr | Myotilinopathie distale | |
| de | Myotilinopathie, distale | |
| es | Miotilinopatía distal | |
| it | Miotilinopatia distale | |
| nl | Distale myotilinopathie | |
| pt | Miotilinopatia | |
| pl | Miotylinopatia dystalna | |
| cs | Distální myotilinopatie | |
| uk | Дистальна міотилінопатія | |
| zh | 远端肢带型肌营养不良症1A | |
| tr | Distal miyotilinopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609200 | NTBT | validated | |
| ICD-10 | G71.8 | NTBT | attributed | validated |
| ICD-11 | 8C76 | NTBT | attributed | validated |
| MONDO | 0012215 | E | validated | |
| UMLS | C4707358 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases - ORPHA:209224Myotilinopathy
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1A moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYOT | Disease-causing germline mutation(s) in | Assessed | HGNC:12399 | ENSG00000120729 | 604103 | 5q31.2 | myotilin | 15111675[PMID]_16793270[PMID]_21361873[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.9 / 100 000 | Europe | Value and class | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
37 annotations · validated 2018-12-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030226 | Abnormal muscle fiber myotilin | |
| HP:0001288 | Gait disturbance | |
| HP:0001265 | Hyporeflexia | |
| HP:0003749 | Pelvic girdle muscle weakness | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0009063 | Progressive distal muscle weakness | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0003547 | Shoulder girdle muscle weakness | |
| Frequent (79-30%) | ||
| HP:0003736 | Autophagic vacuoles | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0003698 | Difficulty standing | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002460 | Distal muscle weakness | |
| HP:0001260 | Dysarthria | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0012548 | Fatty replacement of skeletal muscle | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0012515 | Hip flexor weakness | |
| HP:0001611 | Hypernasal speech | |
| HP:0002540 | Inability to walk | |
| HP:0100297 | Increased endomysial connective tissue | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0006376 | Limited elbow flexion | |
| HP:0005085 | Limited knee flexion/extension | |
| HP:0006794 | Loss of ability to walk in first decade | |
| HP:0002828 | Multiple joint contractures | |
| HP:0003552 | Muscle stiffness | |
| Occasional (29-5%) | ||
| HP:0002795 | Abnormal respiratory system physiology | |
| HP:0001638 | Cardiomyopathy | |
| HP:0002015 | Dysphagia | |
| HP:0000297 | Facial hypotonia | |
| HP:0009073 | Progressive proximal muscle weakness | |
| HP:0012496 | Reduced maximal inspiratory pressure | |
| HP:0002792 | Reduced vital capacity | |
| HP:0002878 | Respiratory failure | |
| HP:0002093 | Respiratory insufficiency | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 16380616[PMID]_3275904[PMID]_12428213[PMID]_9828127[PMID]_21336781[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98911
- This record as JSON: /data/d/98911.json