Living with Spinocerebellar ataxia 43
A rare inherited condition starting in adulthood with slowly worsening balance and walking problems and nerve damage.
Understanding Spinocerebellar ataxia 43
Poor coordination worsens slowly. It comes with nerve damage in the limbs, causing reduced reflexes and less feeling. Leg pain and muscle wasting may occur, along with slurred speech, jerky eye movements and tremor.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and unsteady walk
- Nerve damage in the limbs
- Reduced reflexes
- Less feeling in the hands and feet
- Slurred speech
- Foot drop and high-arched feet
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 and genetic specialists.
- 3Consider genetic testing
Changes in MME 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 may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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
GARD lists changes in the MME gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: autosomal dominant cerebellar ataxia caused by mutation in mme; mme autosomal dominant cerebellar ataxia; sca43; spinocerebellar ataxia 43; sca43; spinocerebellar ataxia type 43
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 Spinocerebellar ataxia 43.
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