Living with Ataxia-hypogonadism-choroidal dystrophy syndrome
A rare genetic condition (Boucher-Neuhäuser syndrome) affecting balance, vision, and sexual development.
Understanding Ataxia-hypogonadism-choroidal dystrophy syndrome
It has three key features: ataxia (trouble with coordination and balance), hypogonadotropic hypogonadism (low hormones that direct sexual development, causing delayed puberty), and chorioretinal dystrophy (problems with the back of the eye that impair vision). Some people have short stature and eye movement problems like nystagmus. It is part of the PNPLA6-related disorders.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble with balance and coordination (ataxia)
- Unsteady walking and frequent falls
- Delayed puberty (hypogonadotropic hypogonadism)
- Eye changes in the retina and choroid (chorioretinal dystrophy)
- Impaired vision
- Short stature in some people
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, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in PNPLA6 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
National Ataxia Foundation, Resolve: The National Infertility Association and Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: National Ataxia Foundation, Resolve: The National Infertility Association, Pituitary Network Association
- 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 National Ataxia 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
GARD says changes in the PNPLA6 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: bnhs; boucher neuhäuser syndrome; boucher-neuhauser syndrome; boucher-neuhchäuser syndrome; boucher-neuhäuser syndrome; cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome
Patient organizations
- National Ataxia FoundationAtaxia · United States
- Resolve: The National Infertility AssociationInfertility · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Ataxia-hypogonadism-choroidal dystrophy syndrome.
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