nemaline myopathy type 5 (Amish nemaline myopathy)

Epidemiology

• common among old order Amish; incidence of approximately 1:500.

Genetics

• associated with defects in TNNT1
• nucleotide replacement in exon 11 results in a truncated protein

Clinical manifestations

• affected infants have tremors with hypotonia & mild contractures of the shoulders & hips
• proximal contractures progressively weaken & a pectus carinatum deformity develops
• children die of respiratory insufficiency, usually in the second year

More general terms

• nemaline myopathy (rod myopathy)

Database

• OMIM: https://mirror.omim.org/entry/605355