Living with Nemaline myopathy
A group of inherited muscle conditions with weakness, most severe in the face, neck, trunk, and muscles near the center of the body.
Understanding Nemaline myopathy
People have muscle weakness throughout the body. It is typically most severe in the face, neck, trunk, and upper arms and legs. It can slowly worsen. People may have feeding and swallowing difficulties, foot differences, curved spine, and tight joints. Most can walk, although some children walk later. It is divided into six types, which differ by age at onset and severity.
Signs & symptoms
GARD doesn't list a detailed symptom list, but the summary describes these features:
- Muscle weakness, most severe in the face, neck, and trunk
- Feeding and swallowing difficulties
- Foot differences
- Curved spine (scoliosis)
- Tight joints (contractures)
- Breathing muscle weakness in some people
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Muscular Dystrophy Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with A Foundation Building Strength and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It can be inherited in an autosomal dominant or an autosomal recessive pattern.
Also known as: myopathies, nemaline; nem; nemaline body disease; nemaline rod myopathy; nm; rod myopathy
Patient organizations
- A Foundation Building StrengthNemaline myopathy · United States
- Muscular Dystrophy AssociationNemaline myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Nemaline myopathy.
Explore research for Nemaline myopathy
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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