Living with Typical nemaline myopathy
A genetic muscle condition present from birth with weakness in the face and body muscles and mild breathing involvement.
Understanding Typical nemaline myopathy
It also involves mild breathing involvement. It starts during pregnancy and is noticed in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone in newborns (hypotonia)
- Weakness in the face and neck muscles
- Weakness in limb muscles
- Foot drop
- Breathing problems (respiratory insufficiency)
- High palate
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 (variants) cause this condition and lists both autosomal dominant and autosomal recessive inheritance. It doesn't name a specific gene.
Patient organizations
- A Foundation Building StrengthTypical nemaline myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Typical nemaline myopathy.
Explore research for Typical nemaline myopathy
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