Living with Myoclonus-cerebellar ataxia-deafness syndrome
A rare inherited condition that combines muscle jerks, poor coordination, and hearing loss, starting in childhood.
Understanding Myoclonus-cerebellar ataxia-deafness syndrome
People have muscle jerks (myoclonus), coordination problems from the cerebellum (ataxia), and hearing loss from the inner ear. GARD lists onset in childhood. It is autosomal dominant.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sudden muscle jerks (myoclonus)
- Slowly worsening poor coordination
- Hearing loss in both ears
- Slurred speech (dysarthria)
- Shaking when reaching (intention tremor)
- Muscle wasting
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
Muscular Dystrophy Association and 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: Muscular Dystrophy Association, 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 Muscular Dystrophy Association 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 genes cause this condition. It is autosomal dominant, which means one changed copy of a gene can be enough to cause it.
Also known as: myoclonus-cerebellar ataxia-hearing loss syndrome; myoclonus, cerebellar ataxia, and deafness
Patient organizations
- Muscular Dystrophy AssociationMyoclonus-cerebellar ataxia-deafness syndrome · United States
- National Ataxia FoundationAtaxia · United States
You are more than your diagnosis
Perspectives from people navigating life with Myoclonus-cerebellar ataxia-deafness syndrome.
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