Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary neuromuscular disorder that causes muscle weakness, generally nonprogressive, of varying severity.
"Myopathy" means "muscle disease," and a biopsy of muscle from a person with nemaline myopathy shows abnormal thread-like rods, called nemaline bodies, in the muscle cells. People with nemaline myopathy (or NM) usually experience delayed motor development and weakness in the arm, leg, trunk, throat, and face muscles.
The disorder is often clinically categorized into several groups, including mild (typical), intermediate, severe, and adult-onset; however, these distinctions are somewhat ambiguous, as the categories frequently overlap. Respiratory problems are a primary concern for people with all forms of NM, and though in some severe cases they may threaten life expectancy, aggressive and proactive care allows most individuals to survive and lead active lives.
Nemaline myopathy is one of forty neuromuscular diseases covered by the Muscular Dystrophy Association.
Read more about Nemaline Myopathy: Genetic Qualities, History and Early Identification, Physical Characteristics and Effects, Nemaline Community