Overview
Alopecia-hypogonadism-extrapyramidal syndrome is an extremely rare genetic condition that affects several body systems at once. The name describes its three main features: alopecia (hair loss), hypogonadism (reduced function of the sex glands, meaning the ovaries or testes do not produce enough hormones), and extrapyramidal symptoms (movement problems caused by issues in certain parts of the brain that help control movement). People with this condition typically experience progressive hair loss that can begin in childhood or adolescence, delayed or incomplete puberty due to low levels of sex hormones, and involuntary movements or difficulty coordinating movements similar to what is seen in conditions like Parkinson's disease or dystonia. Some affected individuals may also have intellectual disability or learning difficulties. Because this syndrome is so rare, with only a handful of cases described in the medical literature, there is limited information about the full range of symptoms and the best approaches to treatment. Management is currently focused on treating each symptom individually, such as hormone replacement therapy for hypogonadism and medications to help control movement problems. There is no cure at this time, and care typically involves a team of specialists working together.
Also known as:
Key symptoms:
Hair loss or thinning hair (alopecia)Delayed or absent pubertyLow levels of sex hormonesInvoluntary movements (such as tremors or jerky motions)Stiffness or rigidity of musclesDifficulty with coordination and balanceIntellectual disability or learning difficultiesReduced fertilitySlow or abnormal movementsPossible mental health changes
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Alopecia-hypogonadism-extrapyramidal syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Alopecia-hypogonadism-extrapyramidal syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Alopecia-hypogonadism-extrapyramidal syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Alopecia-hypogonadism-extrapyramidal syndrome.
Community
No community posts yet. Be the first to share your experience with Alopecia-hypogonadism-extrapyramidal syndrome.
Start the conversation →Latest news about Alopecia-hypogonadism-extrapyramidal syndrome
No recent news articles for Alopecia-hypogonadism-extrapyramidal syndrome.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific tests should be done to confirm this diagnosis?,Should we pursue whole exome or whole genome sequencing to look for a genetic cause?,What hormone replacement options are available and when should they be started?,What medications can help with the movement problems, and what are their side effects?,Are there any clinical trials or research studies we could participate in?,How often should we schedule follow-up visits with each specialist?,What support services are available for emotional and educational needs?
Common questions about Alopecia-hypogonadism-extrapyramidal syndrome
What is Alopecia-hypogonadism-extrapyramidal syndrome?
Alopecia-hypogonadism-extrapyramidal syndrome is an extremely rare genetic condition that affects several body systems at once. The name describes its three main features: alopecia (hair loss), hypogonadism (reduced function of the sex glands, meaning the ovaries or testes do not produce enough hormones), and extrapyramidal symptoms (movement problems caused by issues in certain parts of the brain that help control movement). People with this condition typically experience progressive hair loss that can begin in childhood or adolescence, delayed or incomplete puberty due to low levels of sex h
How is Alopecia-hypogonadism-extrapyramidal syndrome inherited?
Alopecia-hypogonadism-extrapyramidal syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Alopecia-hypogonadism-extrapyramidal syndrome typically begin?
Typical onset of Alopecia-hypogonadism-extrapyramidal syndrome is childhood. Age of onset can vary across affected individuals.