Progressive muscular atrophy
Synonyms: PMA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare motor neuron disease characterized by isolated lower motor neuron features, including progressive flaccid weakness, muscle atrophy, fasciculations, and reduced or absent tendon reflexes. Onset is in late adulthood, with men being affected more often than women. Upper motor neuron signs may develop later in some cases. Occurrence of respiratory insufficiency determines the prognosis. Neuropathological analysis shows intraneuronal Bunina bodies and ubiquitin-positive inclusions.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive muscular atrophy | PMA |
| fr | Atrophie musculaire progressive | AMP |
| de | Progressive Muskelatrophie | = en |
| es | Atrofia muscular progresiva | AMP |
| it | Atrofia muscolare progressiva | = en |
| nl | Progressieve spieratrofie | PMA · Progressieve musculaire atrofie |
| pt | Atrofia muscular progressiva | |
| pl | Postępująca atrofia mięśniowa | = en |
| cs | Progresivní svalová atrofie | = en |
| uk | Прогресуюча мязова атрофія | = en |
| zh | 进行性肌萎缩 | = en |
| tr | İlerleyici kas atrofisi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G12.2 | NTBT | attributed | validated |
| ICD-11 | 8B60.3 | E | specific | validated |
| MONDO | 0018687 | E | validated | |
| UMLS | C0917981 | E | validated | |
| MedDRA | 10036808 | 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 (2):
- ORPHA:98503Motor neuron disease
rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/454706
- This record as JSON: /data/d/454706.json