Living with Severe congenital nemaline myopathy
A severe muscle condition from birth with very low muscle tone, little movement, and breathing and swallowing trouble.
Understanding Severe congenital nemaline myopathy
Newborns have severe low muscle tone (hypotonia) and move very little on their own. It can bring breathing trouble, swallowing trouble, and stiff joints. Signs may start before birth, such as reduced fetal movement. It begins in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe low muscle tone in newborns
- Little spontaneous movement
- Breathing difficulties
- Trouble swallowing
- Stiff, bent joints (contractures)
- Reduced movement before birth
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 it is inherited in an autosomal recessive way, so a child inherits a changed copy of a gene from each parent. It does not name a gene in this record.
Patient organizations
- A Foundation Building StrengthSevere congenital nemaline myopathy · United States
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Perspectives from people navigating life with Severe congenital nemaline myopathy.
Explore research for Severe congenital nemaline myopathy
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