Laing distal myopathy
Synonyms: Distal myopathy type 1 · MPD1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare autosomal dominant distal myopathy characterized by preferential weakness of the great toe, ankle dorsiflexor, finger extensor and neck flexor. Progression is slow with variations in age of onset, severity, weakness, cardiac, and respiratory involvement.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Laing distal myopathy | Distal myopathy type 1 · MPD1 |
| fr | Myopathie distale de Laing | MPD1 · Myopathie distale type 1 |
| de | Myopathie, distale, Typ Laing | MPD1 · Myopathie, distale, Typ 1 |
| es | Miopatía distal de Laing | MPD1 · Miopatía distal tipo 1 |
| it | Miopatia distale di Laing | MPD1 · Miopatia distale a esordio precoce di Laing · Miopatia distale, tipo 1 |
| nl | Distale myopathie, Laing-type | Distale myopathie type 1 · MPD1 |
| pt | Miopatia distal Laing | MPD1 · Miopatia distal tipo 1 |
| pl | Miopatia dystalna Lainga o wczesnym początku | Choroba Gowersa · Miopatia dystalna typu 1 · MPD1 |
| cs | Laingova distální myopatie s časným nástupem | Distální myopatie, typ 1 · Gowersova nemoc · MPD1 |
| uk | Дистальна міопатія з раннім початком | Дистальна міопатія типу 1 · Хвороба Говерса · MPD1 |
| zh | Laing早发性远端肌病 | 远端肌病1型 |
| tr | Erken başlangıçlı distal miyopati | MPD1 · Gowers hastalığı · Distal miyopati tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 160500 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0008050 | E | validated | |
| UMLS | C4552004 | E | validated | |
| GARD | 10769 | 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:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases - ORPHA:209185Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYH7 | Disease-causing germline mutation(s) in | Assessed | HGNC:7577 | ENSG00000092054 | 160760 | 14q11.2 | myosin heavy chain 7 | 20301606[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
20 annotations · validated 2018-12-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0011916 | Toe extensor amyotrophy | |
| Frequent (79-30%) | ||
| HP:0008316 | Abnormal mitochondria in muscle tissue | |
| HP:0001430 | Abnormality of the calf musculature | |
| HP:0002460 | Distal muscle weakness | |
| HP:0001288 | Gait disturbance | |
| HP:0000218 | High palate | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0003789 | Minicore myopathy | |
| HP:0003326 | Myalgia | |
| HP:0000467 | Neck muscle weakness | |
| HP:0003323 | Progressive muscle weakness | |
| HP:0002650 | Scoliosis | |
| HP:0004696 | Talipes cavus equinovarus | |
| HP:0003803 | Type 1 muscle fiber predominance | |
| HP:0012507 | Weakness of orbicularis oculi muscle | |
| Occasional (29-5%) | ||
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| Excluded (0%) | ||
| HP:0003805 | Rimmed vacuoles | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 7847377[PMID]_12975303[PMID]_20733148[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/59135
- This record as JSON: /data/d/59135.json