Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur.
HOW IS NEMALINE MYOPATHY DIAGNOSED?
Diagnosis of the condition is done based on a complete clinical evaluation along with detailed family medical history. Diagnosis is confirmed by the general physician on observing the presence of thread- or rod-like structures (nemaline bodies) on muscle biopsy.
HOW IS NEMALINE MYOPATHY TREATED?
No specific treatment is available for Nemaline Myopathy, but symptomatic relief can be provided. Respiratory support may be provided to prevent nocturnal hypoventilation in the affected individual.
DID YOU KNOW?
This disease is caused by a variety of genetic defects, each one affecting one of the filament proteins required for muscle tone and contraction. It can be inherited in an autosomal recessive or autosomal dominant pattern, meaning it can be produced by defective genes contributed by either one or both parents.