Living with Sengers syndrome
A mitochondrial condition with cataracts from birth, a thickened heart muscle, and muscle weakness.
Understanding Sengers syndrome
It is also called congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy. People have muscle weakness and a buildup of lactic acid after exercise. It begins in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cataracts (clouded eye lenses)
- Thickened heart muscle (hypertrophic cardiomyopathy)
- Muscle weakness (myopathy)
- Nearsightedness
- Crossed eyes
- Involuntary eye movements (nystagmus)
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 eye disease specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in AGK 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
United Mitochondrial Disease Foundation, Children's Cardiomyopathy Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, Children's Cardiomyopathy Foundation, MitoAction
- 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 United Mitochondrial Disease Foundation 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
It is caused by changes in the AGK gene. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: cardiomyopathy and cataract; congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome; mitochondrial dna depletion syndrome 10; mitochondrial dna depletion syndrome 10 (cardiomyopathic type)
Patient organizations
- United Mitochondrial Disease FoundationSengers syndrome · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Sengers syndrome.
Explore research for Sengers syndrome
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