HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
Synonyms: MFM13 · Myofibrillar myopathy-rimmed vacuoles type 13
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare genetic neuromuscular disease characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome | MFM13 · Myofibrillar myopathy-rimmed vacuoles type 13 |
| fr | Syndrome autosomique dominant de neuropathie motrice distale axonale-myopathie myofibrillaire associée à HSPB8 | |
| de | Distale axonale motorische Neuropathie-myofibrilläre Myopathie-Syndrom, HSPB8-assoziiertes | MFM13 · Myofibrilläre Myopathie mit geränderten Vakuolen Typ 13 |
| es | Síndrome de neuropatía motora distal axonal-miopatía miofibrilar autosómico dominante asociado a HSPB8 | MFM13 · Miopatía miofibrilar con vacuolas ribeteadas tipo 13 |
| it | Sindrome autosomica dominante neuropatia motoria assonale distale-miopatia miofibrillare correlata a HSPB8 | MFM13 · Miopatia miofibrillare-vacuoli cerchiati tipo 13 |
| nl | HSPB8-gerelateerd autosomaal dominant distale axonale motorneuropathie - myofibrillaire myopathie-syndroom | MFM13 · Myofibrillaire myopathie - omrande vacuolen type 13 |
| pt | Síndrome de neuropatia motora axonal distal-miopatia fibrilar autossómica dominante | MFM13 · Miopatia miofibrilar-vacúolos com bordo tipo 13 |
| pl | Zespół autosomalnie dominującej dystalnej aksonalnej neuropatii ruchowej – miopatii miofibrylarnej związanej z HSPB8 | = en |
| cs | Autozomálně dominantní syndrom zahrnující distální axonální motorickou neuropatii a myofibrilární myopatii | = en |
| uk | Синдром аутосомно-домінантної дистальної аксональної моторної нейропатії-міофібрилярної міопатії | |
| zh | 常染色体显性遗传性远端轴突运动神经病-肌原纤维肌病综合征 | |
| tr | Otozomal dominant distal aksonal motor nöropati-miyofibriler miyopati sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 621078 | E | validated | |
| ICD-10 | G60.8 | NTBT | attributed | validated |
| MONDO | 0018773 | E | validated | |
| UMLS | C5568137 | 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 (3):
- ORPHA:140465Autosomal dominant distal hereditary motor neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases - ORPHA:593Myofibrillar myopathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HSPB8 | Disease-causing germline mutation(s) in | Assessed | HGNC:30171 | ENSG00000152137 | 608014 | 12q24.23 | heat shock protein family B (small) member 8 | 26718575[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 26718575[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26718575[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/476093
- This record as JSON: /data/d/476093.json