Learn About Nemaline Myopathy

What is the definition of 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.

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What are the causes of Nemaline Myopathy?

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.

How prevalent is Nemaline Myopathy?

Nemaline myopathy has an estimated incidence of 1 in 50,000 individuals.

Is Nemaline Myopathy an inherited disorder?

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.

Who are the top Nemaline Myopathy Local Doctors?
Elite
Highly rated in
8
conditions

University Of Western Australia

School Of Biomedical Sciences, Faculty Of Health And Medical Sciences 
Nedlands, WA, AU 

Kristen Nowak is in Nedlands, Australia. Nowak is rated as an Elite expert by MediFind in the treatment of Nemaline Myopathy. She is also highly rated in 8 other conditions, according to our data. Her top areas of expertise are Nemaline Myopathy, X-Linked Myotubular Myopathy, Congenital Fiber-Type Disproportion, and Tubular Aggregate Myopathy.

Elite
Highly rated in
10
conditions

University Of Arizona

Amsterdam, NH, NL 

Coen Ottenheijm is in Amsterdam, Netherlands. Ottenheijm is rated as an Elite expert by MediFind in the treatment of Nemaline Myopathy. He is also highly rated in 10 other conditions, according to our data. His top areas of expertise are Nemaline Myopathy, Congenital Fiber-Type Disproportion, Tubular Aggregate Myopathy, and X-Linked Myotubular Myopathy.

 
 
 
 
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Distinguished
Highly rated in
6
conditions

University Of Helsinki And Helsinki University Hospital

Helsinki, FI 

Vilma-lotta Lehtokari is in Helsinki, Finland. Lehtokari is rated as a Distinguished expert by MediFind in the treatment of Nemaline Myopathy. They are also highly rated in 6 other conditions, according to our data. Their top areas of expertise are Nemaline Myopathy, Congenital Fiber-Type Disproportion, Tubular Aggregate Myopathy, and X-Linked Myotubular Myopathy.

What are the latest Nemaline Myopathy Clinical Trials?
Molecular Analysis of Neuromuscular Disease
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COMPIS- Congenital Myopathy Intervention Study. An Open-label, Cross Over, Randomised, Controlled Study Using Oral Salbutamol
Who are the sources who wrote this article ?

Published Date:updated Last, December

Published By: National Institutes of Health

What are the Latest Advances for Nemaline Myopathy?
Daratumumab for treatment-refractory antibody-mediated diseases in neurology.
Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.
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A case of sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance: long-term observation of neurological symptoms after autologous stem-cell transplantation.