Myotilin-related myofibrillar myopathy without spheroid body
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MYOTILINOPATHY MYOPATHY, MYOFIBRILLAR, MYOTILIN-RELATED MFM3 |
| Number of Symptoms | 26 |
| OrphanetNr: | 98911 |
| OMIM Id: |
609200
|
| ICD-10: |
G71.8 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
Adult onset [Omim] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant distal myopathy
-Rare genetic disease -Rare neurologic disease Myofibrillar myopathy -Rare genetic disease -Rare neurologic disease Qualitative or quantitative defects of myotilin -Rare genetic disease |
Symptom Information:
|
|
(HPO:0001284) | Areflexia | 198 / 7739 | ||||
|
|
(HPO:0001271) | Polyneuropathy | 56 / 7739 | ||||
|
|
(HPO:0009830) | Peripheral neuropathy | 206 / 7739 | ||||
|
|
(HPO:0002600) | Hyporeflexia of lower limbs | 13 / 7739 | ||||
|
|
(HPO:0001771) | Achilles tendon contracture | 27 / 7739 | ||||
|
|
(HPO:0001638) | Cardiomyopathy | 192 / 7739 | ||||
|
|
(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
|
|
(HPO:0100303) | Muscle fiber cytoplasmatic inclusion bodies | 3 / 7739 | ||||
|
|
(HPO:0003701) | Proximal muscle weakness | 105 / 7739 | ||||
|
|
(HPO:0009063) | Progressive distal muscle weakness | 4 / 7739 | ||||
|
|
(HPO:0003693) | Distal amyotrophy | 118 / 7739 | ||||
|
|
(HPO:0003715) | Myofibrillar myopathy | 9 / 7739 | ||||
|
|
(HPO:0003326) | Myalgia | 143 / 7739 | ||||
|
|
(HPO:0003552) | Muscle stiffness | 23 / 7739 | ||||
|
|
(OMIM) | Abnormal muscle fibers with amorphous, granular, or hyaline deposits | 2 / 7739 | ||||
|
|
(OMIM) | Electron microscopy shows dense material emanating from the Z-disk | 1 / 7739 | ||||
|
|
(OMIM) | Muscle biopsy shows myofibrillar myopathy | 2 / 7739 | ||||
|
|
(OMIM) | EMG shows myopathic and neurogenic changes | 1 / 7739 | ||||
|
|
(HPO:0003581) | Adult onset | 117 / 7739 | ||||
|
|
(HPO:0003677) | Slow progression | 134 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Congophilic staining | 1 / 7739 | ||||
|
|
(OMIM) | Proximal muscle involvement may occur | 3 / 7739 | ||||
|
|
(OMIM) | Phagocytic vacuoles with degraded membranous material | 1 / 7739 | ||||
|
|
(OMIM) | Increased staining for myotilin, dystrophin, desmin | 1 / 7739 | ||||
|
|
(OMIM) | Muscle stiffness or aching | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Myotilinopathy is a form of myofibrillar myopathy. Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z disc. ... |
| Clinical Description OMIM |
Selcen and Engel (2004) reported 6 unrelated patients with myofibrillar myopathy caused by mutation in the myotilin gene. Age at symptom onset ranged from 50 to 77 years (mean, 59.8 years). One patient had a brother with distal ... |
| Molecular genetics OMIM |
In 6 of 57 unrelated patients with myofibrillar myopathy, Selcen and Engel (2004) identified 4 heterozygous mutations in the myotilin gene (604103.0002-604103.0005). They termed the disorder 'myotilinopathy' to distinguish it from other forms of myofibrillar myopathy. Selcen and ... |