myofibrillar myopathy 5
Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0016189
qualitative or quantitative defects of filamin C
is_a
MONDO:0018943
myofibrillar myopathy
is_a
MONDO:0100545
hereditary neurological disease
is_a
FLNC myofibrillar myopathy (disease)
exact
MFM5
related
myofibrillar myopathy (disease) caused by mutation in FLNC
exact
myofibrillar myopathy 5
exact
myofibrillar myopathy type 5
exact
myopathy, myofibrillar, 5
related
myopathy, myofibrillar, type 5
exact