Nemaline MyopathySymptoms, Doctors, Treatments, Advances & More
Learn About Nemaline Myopathy
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; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. 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.
Mutations in one of many genes can cause nemaline myopathy. These genes provide instructions for producing proteins that play important roles in skeletal muscles. Within skeletal muscle cells, these proteins are found in structures called sarcomeres. Sarcomeres are necessary for muscles to tense (contract). Many of the proteins associated with nemaline myopathy interact within the sarcomere to facilitate muscle contraction. When the skeletal muscle cells of people with nemaline myopathy are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells contain rod-like structures called nemaline bodies.
Nemaline myopathy has an estimated incidence of 1 in 50,000 individuals.
Nemaline myopathy is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
MN - Neuro
Margherita Milone is a Neurologist practicing medicine in Rochester, Minnesota. Dr. Milone is rated as an Elite provider by MediFind in the treatment of Nemaline Myopathy. She is also highly rated in 36 other conditions, according to our data. Her clinical expertise encompasses Necrotizing Myopathy (NM), Nemaline Myopathy, Progressive External Ophthalmoplegia, and Tubular Aggregate Myopathy. Dr. Milone is board certified in MN State Medical License 2003-2023.
Julien Ochala practices practicing medicine in Copenhagen, Denmark. Mr. Ochala is rated as an Elite expert by MediFind in the treatment of Nemaline Myopathy. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Nemaline Myopathy, Tubular Aggregate Myopathy, Congenital Fiber-Type Disproportion, and X-Linked Myotubular Myopathy.
Edna Hardeman practices practicing medicine in Sydney, Australia. Ms. Hardeman is rated as an Elite expert by MediFind in the treatment of Nemaline Myopathy. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Nemaline Myopathy, Tubular Aggregate Myopathy, X-Linked Myotubular Myopathy, and Congenital Fiber-Type Disproportion.
Summary: In the Congenital Myopathy Research Program at Boston Children's Hospital and Harvard Medical School, the researchers are studying the congenital myopathies (neuromuscular diseases present from birth), including central core disease, centronuclear/myotubular myopathy, congenital fiber type disproportion, multiminicore disease, nemaline myopathy, rigid spine muscular dystrophy, SELENON (SEPN1), RYR...
Summary: The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of nemaline myopathies. The study aims to establish a well-defined cohort of patients in Spain, enabling long-term follow-up and facilitating recruitment for future clinical trials.
Published Date: December 01, 2015
Published By: National Institutes of Health