Late-onset distal myopathy, Markesbery-Griggs type
Synonyms: ZASP-related myofibrillar myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Late-onset distal myopathy, Markesbery-Griggs type | ZASP-related myofibrillar myopathy |
| fr | Myopathie distale tardive type Markesbery-Griggs | Myopathie myofibrillaire par mutation du gène ZASP |
| de | Spät-beginnende distale Myopathie Typ Markesbery-Griggs | ZASP-abhängige myofibrilläre Myopathie |
| es | Miopatía distal de inicio tardío tipo Maskerbery-Griggs | Miopatía miofibrilar ligada a ZASP |
| it | Miopatia distale a esordio tardivo, tipo Markesbery-Griggs | Miopatia miofibrillare ZASP-correlata |
| nl | Laat optredende distale myopathie, Markesbery-Griggs-type | ZASP-gerelateerde myofibrillaire myopathie |
| pt | Miopatia distal de início tardio, tipo Markesbery-Griggs | Miopatia miofibrilar relacionada com ZASP |
| pl | Miopatia dystalna o późnym początku, typ Markesbery'ego i Griggsa | Miopatia miofibrylarna związana z ZASP |
| cs | Distální myopatie s pozdním nástupem, Markesberyho-Griggsův typ | ZASP-vázaná myofibrilární myopatie · Distální myopatie s pozdním nástupem, Markesbery-Griggsův typ |
| uk | Пізня дистальна міопатія, тип Маркесбері-Гріггса | Міофібрилярна міопатія, повязана з ZASP |
| zh | 迟发性远端肌病症Markesbery-Griggs型 | ZASP相关肌原纤维肌病 |
| tr | Geç başlangıçlı distal miyopati, Markesbery-Griggs tipi | ZASP-ilişkili miyofibriler miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609452 | E | validated | |
| ICD-10 | G71.8 | NTBT | attributed | validated |
| MONDO | 0012277 | E | validated | |
| MeSH | C563718 | E | validated | |
| UMLS | C1836155 | E | validated | |
| GARD | 1886 | 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:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases - ORPHA:593Myofibrillar myopathy
rare genetic diseases; rare neurological diseases - ORPHA:209050Qualitative or quantitative defects of protein ZASP
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LDB3 | Disease-causing germline mutation(s) in | Assessed | HGNC:15710 | ENSG00000122367 | 605906 | 10q23.2 | LIM domain binding 3 | 20809097[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15668942[PMID] |
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 15668942[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
21 annotations · validated 2019-01-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0030198 | Fatigable weakness of distal limb muscles | |
| HP:0008954 | Intrinsic hand muscle atrophy | |
| HP:0009073 | Progressive proximal muscle weakness | |
| Occasional (29-5%) | ||
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0031374 | Ankle weakness | |
| HP:0008969 | Leg muscle stiffness | |
| HP:0009077 | Weakness of long finger extensor muscles | |
| HP:0009005 | Weakness of the intrinsic hand muscles | |
| HP:0031189 | Wrist drop | |
| Very rare (<4-1%) | ||
| HP:0005162 | Abnormal left ventricular function | |
| HP:0001638 | Cardiomyopathy | |
| HP:0009072 | Decreased Achilles reflex | |
| HP:0011808 | Decreased patellar reflex | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0001288 | Gait disturbance | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0012722 | Heart block | |
| HP:0003325 | Limb-girdle muscle weakness | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
| Excluded (0%) | ||
| HP:0002505 | Loss of ambulation | |
Annotation source: 25037092[PMID]_15668942[PMID]_20809097[PMID]_16684602[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98912
- This record as JSON: /data/d/98912.json