nemaline myopathy 5A

info · Genetic

A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset.

Signs and symptoms

Progressive muscle weakness
Myopathy
Hip contracture
Decreased hip abduction
Delayed gross motor development
Proximal amyotrophy
Type 1 muscle fiber predominance
Z-band streaming
Nemaline bodies
Tremor

Also known as: ANM; Amish nemaline myopathy; NEM5; nemaline myopathy 5, Amish type