Living with Nemaline myopathy 5
A type of nemaline myopathy seen only in a few families in the Amish community, starting in the newborn period.
Understanding Nemaline myopathy 5
Babies have low muscle tone from birth and delays in motor skills. Muscle weakness and wasting slowly get worse, especially in muscles near the center of the body. Joints can become tight, and the chest can have a pigeon-chest shape.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone at birth
- Delayed motor skills
- Slowly worsening muscle weakness
- Wasting of muscles near the center of the body
- Tight hips and shoulders (contractures)
- Pigeon chest (pectus carinatum)
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.
- 3Consider genetic testing
Changes in TNNT1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 changes in the TNNT1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: amish nemaline myopathy; anm; nem5; nem5a; nemaline myopathy 5, amish type; nemaline myopathy 5a, autosomal recessive, severe infantile
Patient organizations
- A Foundation Building StrengthNemaline myopathy 5 · United States
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Perspectives from people navigating life with Nemaline myopathy 5.
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