HNRNPA1-related adult-onset distal myopathy
Synonyms: Distal myopathy type 3 · Finnish upper limb-onset distal myopathy · MPD3
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult
- Status
- active
Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | HNRNPA1-related adult-onset distal myopathy | Distal myopathy type 3 · Finnish upper limb-onset distal myopathy · MPD3 |
| fr | Myopathie distale de l'adulte associée à HNRNPA1 | MPD3 · Myopathie distale avec atteinte initiale des membres supérieurs, type finlandais · Myopathie distale type 3 |
| de | HNRNPA1-assoziierte distale Myopathie mit Beginn im Erwachsenenalter | Distale Myopathie der obere Extremitäten, Finnischer Typ · MPD3 · Myopathie, distale, Typ 3 |
| es | Miopatía distal de inicio en el adulto asociada a HNRNPA1 | MPD3 · Miopatía distal finlandesa de incio en las extremidades superiores · Miopatía distal tipo 3 |
| it | Miopatia distale ad esordio agli arti superiori, tipo finlandese | |
| nl | HNRNPA1-gerelateerde distale myopathie met aanvang op volwassen leeftijd | Distale myopathie met aanvang in bovenste ledematen, Fins type · Distale myopathie type 3 · MPD3 |
| pt | Miopatia distal de início no adulto HNRNPA1- relacionada | MPD3 · Miopatia distal finlandesa de início nos membros superiores · Miopatia distal tipo 3 |
| pl | Fińska dystalna miopatia w kończynach górnych o wczesnym początku | Dystalna miopatia typu 3 · MPD3 |
| cs | Finská distální myopatie s nástupem na horních končetinách | Distální myopatie, typ 3 · MPD3 |
| uk | Фінська дистальна міопатія верхніх кінцівок | Дистальна міопатія типу 3 · MPD3 |
| zh | 芬兰上肢发作性远端肌病 | 远端肌病3型 |
| tr | Fin üst ekstremite-başlangıçlı distal miyopati | MPD3 · Distal miyopati tip 3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610099 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0012410 | E | validated | |
| MeSH | C566445 | E | validated | |
| UMLS | C1864706 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HNRNPA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5031 | ENSG00000135486 | 164017 | 12q13.13 | heterogeneous nuclear ribonucleoprotein A1 | 34722876[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12847162[PMID] |
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 12847162[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
16 annotations · validated 2019-01-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0009031 | Amyotrophy of ankle musculature | |
| HP:0002312 | Clumsiness | |
| HP:0002936 | Distal sensory impairment | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0012548 | Fatty replacement of skeletal muscle | |
| HP:0001288 | Gait disturbance | |
| HP:0008954 | Intrinsic hand muscle atrophy | |
| HP:0009473 | Joint contracture of the hand | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0009063 | Progressive distal muscle weakness | |
| HP:0003805 | Rimmed vacuoles | |
| HP:0003376 | Steppage gait | |
| HP:0009005 | Weakness of the intrinsic hand muscles | |
| Occasional (29-5%) | ||
| HP:0009073 | Progressive proximal muscle weakness | |
| HP:0001171 | Split hand | |
| Excluded (0%) | ||
| HP:0001638 | Cardiomyopathy | |
Annotation source: 15036327[PMID]_12847162[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/399086
- This record as JSON: /data/d/399086.json