Living with Early-onset myopathy with fatal cardiomyopathy
An inherited condition with muscle weakness from early infancy and a weak, enlarged heart that appears later in childhood.
Understanding Early-onset myopathy with fatal cardiomyopathy
Muscle weakness shows up in early infancy, with delays in sitting, standing, and walking. Later in childhood, tight joints (contractures) can limit neck and back movement, and scoliosis can develop. A heart condition called dilated cardiomyopathy enlarges and weakens the heart muscle, with signs that can include an irregular heartbeat, shortness of breath, tiredness, and swelling of the legs and feet. Heart problems usually appear after the muscle problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Generalized muscle weakness
- Delays in motor skills (sitting, standing, walking)
- Weak, enlarged heart (dilated cardiomyopathy)
- Irregular heartbeat (arrhythmia)
- Tight joints (contractures)
- Drooping upper eyelid and facial weakness
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, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in TTN are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Children's Cardiomyopathy Foundation
- 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 Team Titin and other patient organizations
- 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 the TTN gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cmyo5; congenital myopathy 5 with cardiomyopathy; early onset myopathy with fatal cardiomyopathy; eomfc; salih congenital muscular dystrophy; salih myopathy
Patient organizations
- Team TitinEarly-onset myopathy with fatal cardiomyopathy · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Early-onset myopathy with fatal cardiomyopathy.
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