myofibrillar myopathy 4
Late-onset distal myopathy, Markesbery-Griggs type is 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.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0016108
autosomal dominant distal myopathy
is_a
MONDO:0016190
qualitative or quantitative defects of protein ZASP
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MONDO:0018943
myofibrillar myopathy
is_a
LDB3 myofibrillar myopathy (disease)
exact
LDB3-related myofibrillar myopathy
exact
MFM4
related
ZASP-related myofibrillar myopathy
exact
myofibrillar myopathy (disease) caused by mutation in LDB3
exact
myofibrillar myopathy type 4
exact
myopathy, myofibrillar, 4
related
myopathy, myofibrillar, type 4
exact