Living with Gemignani syndrome
A rare nervous system condition with balance problems, muscle weakness, hearing loss, and short stature, starting in adulthood.
Understanding Gemignani syndrome
It involves slowly worsening ataxia (poor balance and coordination), loss of muscle in the hands and lower arms, stiff and weak legs (spastic paraplegia), progressive hearing loss, delayed puberty or low hormone levels (hypogonadism), and short stature. It usually starts in adulthood. GARD says there have been no further descriptions in the literature since 1989.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Muscle wasting (atrophy)
- Hearing loss from the inner ear (sensorineural)
- Delayed puberty
- Short stature
- Increased reflexes
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, ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia 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 National Ataxia Foundation
- 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. A child inherits a changed copy of the gene from each parent (autosomal recessive). GARD does not name the gene.
Also known as: spinocerebellar ataxia-amyotrophy-deafness syndrome; spinocerebellar ataxia-amyotrophy-hearing loss syndrome; spinocerebellar ataxia, amyotrophy, deafness syndrome
Patient organizations
- National Ataxia FoundationAtaxia · United States
Broader rare-disease groups
- 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 Gemignani syndrome.
Explore research for Gemignani syndrome
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- Recruiting studies from ClinicalTrials.gov
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