congenital myopathy 2B

A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation

A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42.

Signs and symptoms

• Poor head control
• Generalized muscle weakness
• Feeding difficulties
• Hypotonia
• Generalized hypotonia
• Respiratory insufficiency
• Weakness of facial musculature
• Increased endomysial connective tissue
• Delayed ability to sit
• Nemaline bodies

Also known as: autosomal recessive congenital myopathy 2B