ORPHA:45448
Miyoshi myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A recessive distal myopathy characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Miyoshi myopathy | |
| fr | Myopathie distale type Miyoshi | |
| de | Miyoshi-Myopathie | |
| es | Miopatía de Miyoshi | |
| it | Miopatia di Miyoshi | |
| nl | Miyoshi myopathie | |
| pt | Miopatia de Miyoshi | |
| pl | Miopatia Miyoshi | |
| cs | Miyoshiho myopatie | |
| uk | Міопатія Мійоші | |
| zh | Miyoshi肌病 | |
| tr | Miyoshi miyopatisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 254130 | E | validated | |
| OMIM | 613318 | BTNT | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C75 | NTBT | index | validated |
| MONDO | 0009685 | E | validated | |
| MeSH | C537480 | E | validated | |
| UMLS | C5553104 | E | validated | |
| GARD | 9676 | 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:206653Autosomal recessive distal myopathy
rare genetic diseases; rare neurological diseases - ORPHA:207073Qualitative or quantitative defects of dysferlin
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DYSF | Disease-causing germline mutation(s) in | Assessed | HGNC:3097 | ENSG00000135636 | 603009 | 2p13.2 | dysferlin | 18853459[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.22 / 100 000 | Japan | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.26 / 100 000 | United Kingdom | Value and class | Validated | 19767415[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | 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.
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HPO phenotypes
25 annotations · validated 2019-01-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003551 | Difficulty climbing stairs | |
| HP:0003698 | Difficulty standing | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0007149 | Distal upper limb amyotrophy | |
| HP:0003738 | Exercise-induced myalgia | |
| HP:0001288 | Gait disturbance | |
| HP:0003749 | Pelvic girdle muscle weakness | |
| HP:0007126 | Proximal amyotrophy | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0003731 | Quadriceps muscle weakness | |
| HP:0003547 | Shoulder girdle muscle weakness | |
| HP:0011399 | Tibialis atrophy | |
| HP:0008963 | Tibialis muscle weakness | |
| Occasional (29-5%) | ||
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0200101 | Decreased/absent ankle reflexes | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0002505 | Loss of ambulation | |
| HP:0003326 | Myalgia | |
| HP:0030051 | Tip-toe gait | |
| HP:0031108 | Triceps weakness | |
| Excluded (0%) | ||
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0008954 | Intrinsic hand muscle atrophy | |
| HP:0003552 | Muscle stiffness | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
Annotation source: 20301480[PMID]_22468107[PMID]_19528035[PMID]_30626655[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/45448
- This record as JSON: /data/d/45448.json