/hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

Rare Disease

MONDO:0019195

Also Known As

HIBM3IBM3hereditary inclusion body myopathy type 3inclusion body myopathy type 3Hereditary inclusion body myopathy - joint contractures - ophthalmoplegiaHereditary inclusion body myopathy type 3Inclusion body myopathy autosomal dominantMyopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles

Definition

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.