myofibrillar myopathy 1
A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
excluded_subClassOf
MONDO:0016108
autosomal dominant distal myopathy
excluded_subClassOf
MONDO:0016112
hereditary inclusion-body myopathy
excluded_subClassOf
MONDO:0016340
familial restrictive cardiomyopathy
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0016187
qualitative or quantitative defects of desmin
is_a
MONDO:0016333
familial dilated cardiomyopathy
is_a
MONDO:0018943
myofibrillar myopathy
is_a
MONDO:0100546
hereditary neuromuscular disease
is_a
CMD1F and LGMD1D
related
DES autosomal recessive limb-girdle muscular dystrophy
exact
DES myofibrillar myopathy (disease)
exact
IBM1
related
MFM1
related
arrhythmogenic right ventricular cardiomyopathy 7
related
arrhythmogenic right ventricular dysplasia, familial, 7
related
autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES
exact
autosomal recessive limb-girdle muscular dystrophy type 2R
exact
cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D
related
cardiomyopathy, dilated, with conduction defect and muscular dystrophy
related
desmin-related myofibrillar myopathy
exact
desminopathy
exact
inclusion body myopathy 1, autosomal dominant
related
myofibrillar myopathy (disease) caused by mutation in DES
exact
myofibrillar myopathy 1
exact
myofibrillar myopathy type 1
exact
myopathy, myofibrillar, 1
related
myopathy, myofibrillar, type 1
exact