Living with Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
A very rare inherited condition with weak muscles, early cataracts, and underactive sex glands.
Understanding Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Hypogonadism means the sex glands (ovaries or testes) are less active. The condition has been described in seven people from an isolated village in Norway and in one unrelated person. It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscular dystrophy
- Low muscle tone (hypotonia)
- Cloudy lens of the eye (cataract)
- Underactive sex glands (hypogonadism)
- Drooping upper eyelid (ptosis)
- Crossed eyes (strabismus)
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, eye disease 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); Eye disease specialists (ophthalmologists); 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 rare disease patient organizations for support
- 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
Changes in genes cause this condition. It appears to be autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: bassoe syndrome; familial congenital muscular dystrophy with gonadal dysgenesis
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome.
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