Living with Childhood-onset nemaline myopathy
A mild form of nemaline myopathy, a muscle condition, that begins in childhood and mainly weakens the muscles far from the center of the body.
Understanding Childhood-onset nemaline myopathy
Muscle contraction is sometimes slow. GARD lists onset in childhood. Symptoms can include walking changes, clumsiness, and trouble with exercise.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Walking difficulty (gait disturbance)
- Clumsiness
- Trouble with exercise
- Weakness in the arms and legs
- Delays in motor skills
- Muscle stiffness
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.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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
- 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 but doesn't name a specific gene. It is listed as autosomal dominant, so one changed copy of a gene can be enough.
Also known as: mild nemaline myopathy
Patient organizations
- A Foundation Building StrengthChildhood-onset nemaline myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Childhood-onset nemaline myopathy.
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