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myofibrillar myopathy
A group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders
Pathology:
- morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc & the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including:
a) desmin
b) alpha-B-crystallin (CRYAB)
c) dystrophin
d) myotilin (TTID)
- polyneuropathy may coexist
- cardiomyopathy may coexist
Genetics:
- associated with defects in CRYAB (type 2) [2]
Clinical manifestations:
- weakness of the proximal & distal limb muscles
- weakness of the neck, velopharynx & trunk muscles
- hypetrophic cardiomyopathy
- cataracts in a subset of patients
Specific
CRYAB-related myofibrillar myopathy; myofibrillar myopathy fatal infantile hypertonic CRYAB; myofibrillar myopathy fatal infantile hypertonic alpha-B crystallin-related
desmin-related myofibrillar myopathy; desmin-related cardioskeletal myopathy
ZASP-related myofibrillar myopathy
General
muscular disease; myopathy
Database Correlations
OMIM correlations
References
- OMIM :accession 601419
- OMIM :accession 608810
- Medical Knowledge Self Assessment Program (MKSAP) 15,
American College of Physicians, Philadelphia 2009