X-linked myopathy with excessive autophagy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MEAX XMEA Vacuolar myopathy |
| Number of Symptoms | 25 |
| OrphanetNr: | 25980 |
| OMIM Id: |
310440
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| ICD-10: |
G71.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 15 families [Orphanet] |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Inclusion myopathy
-Rare genetic disease -Rare neurologic disease Progressive muscular dystrophy -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0008994) | Proximal muscle weakness in lower limbs | 11 / 7739 | ||||
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(HPO:0003202) | Skeletal muscle atrophy | 281 / 7739 | ||||
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(HPO:0002486) | Myotonia | 29 / 7739 | ||||
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(HPO:0003198) | Myopathy | 151 / 7739 | ||||
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(HPO:0009046) | Difficulty running | 17 / 7739 | ||||
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(HPO:0003551) | Difficulty climbing stairs | 23 / 7739 | ||||
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(OMIM) | Increased perisarcolemmal calcium deposition | 1 / 7739 | ||||
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(OMIM) | By fourth decade, many patients need help with ambulation | 1 / 7739 | ||||
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(OMIM) | No cardiac involvement | 2 / 7739 | ||||
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(HPO:0003677) | Slow progression | 134 / 7739 | ||||
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(OMIM) | Vacuoles are autophagocytic and contain granular and membranous cellular debris | 1 / 7739 | ||||
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(OMIM) | Vacuolated muscle fibers show reduplication of the basement membrane | 1 / 7739 | ||||
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(OMIM) | Normal alpha-glucosidase or acid maltase activity (GAA, 606800) | 3 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 | ||||
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(OMIM) | Upper limb involvement and distal muscle involvement may occur later in disease course (often by second decade) | 1 / 7739 | ||||
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(OMIM) | Biopsy shows deposition of complement proteins C5b-9 of the membrane attack complex on muscle fibers | 1 / 7739 | ||||
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(OMIM) | Muscle atrophy appears later in disease course | 1 / 7739 | ||||
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(OMIM) | Some patients become wheelchair-dependent | 1 / 7739 | ||||
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(OMIM) | No mental retardation | 5 / 7739 | ||||
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(OMIM) | Muscle biopsy shows sarcoplasmic or subsarcolemmal vacuoles in muscle fibers | 1 / 7739 | ||||
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(HPO:0003829) | Incomplete penetrance | 85 / 7739 | ||||
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(OMIM) | No muscle fiber necrosis | 1 / 7739 | ||||
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(OMIM) | EMG shows myotonic discharges in the absence of clinical myotonia | 1 / 7739 | ||||
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(OMIM) | Vacuoles appear to be exocytosing material at the cell surface | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Sugie et al. (2005) classified X-linked myopathy with excessive autophagy (XMEA) as a form of autophagic vacuolar myopathy, characterized by intracytoplasmic autophagic vacuoles with sarcolemmal features. Danon disease (300257), caused by mutation in the LAMP2 gene ... |
| Clinical Description OMIM |
Saviranta et al. (1988) and Kalimo et al. (1988) reported an unusual hereditary myopathy in 5 members of a Finnish family in a pedigree pattern consistent with X-linked recessive inheritance. The clinical course was mild; the patients suffered ... |
| Molecular genetics OMIM | For a discussion of the relationship between XMEA and mutations in the VMA21 gene, see 300913. |