Living with Intermediate nemaline myopathy
A type of nemaline myopathy, a muscle condition present at birth, with a more severe course.
Understanding Intermediate nemaline myopathy
It is present from birth. GARD lists problems such as weak muscles, stiff joints, and reduced movement.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weak muscles with reduced movement
- Walking problems
- Stiff joints that can't fully straighten (contractures)
- Facial weakness
- Reduced reflexes
- Differences in the chest shape
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 lists both autosomal dominant and autosomal recessive inheritance. It doesn't name a gene.
Patient organizations
- A Foundation Building StrengthIntermediate nemaline myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Intermediate nemaline myopathy.
Explore research for Intermediate nemaline myopathy
Explore actively recruiting Intermediate nemaline myopathy studies with HealthSpark.
Find actively recruiting studies for Intermediate nemaline myopathy with HealthSpark. Share your city to explore research near you.
- 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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