hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0011577
myopathy, proximal, and ophthalmoplegia
is_a
MONDO:0016112
hereditary inclusion-body myopathy
is_a
HIBM3
exact
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
related
Hereditary inclusion body myopathy type 3
related
IBM3
exact
Inclusion body myopathy autosomal dominant
related
Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles
related
hereditary inclusion body myopathy type 3
exact
inclusion body myopathy type 3
exact