Nemaline myopathy

Nemaline myopathy, also called rod myopathy or nemaline rod myopathy, is a congenital and often hereditary neuromuscular disorder. Symptoms include muscle weakness, hypoventilation, swallowing difficulty and impaired speech, and their severity varies and can change over a lifetime. Muscle fibres contain thread-like rods called nemaline bodies, which are diagnostic but probably a by-product of the disease process. Weakness can affect any skeletal muscle and is usually worse in the proximal muscles, while the eye muscles are normally spared. Forms range from a severe neonatal type incompatible with life to a mild one that may go undiagnosed, and respiratory problems and infections are a central concern. Prevalence is estimated at 1 in 50,000 live births, making it the most common non-dystrophic myopathy. Proactive care lets most people survive and lead active lives.