Living with Spinocerebellar ataxia type 34
An inherited condition with scaly skin patches after birth and later worsening balance and speech problems.
Understanding Spinocerebellar ataxia type 34
Scaly, raised patches of skin appear on the limbs shortly after birth. Later, people develop slowly worsening poor coordination, slurred speech, jerky eye movements and decreased reflexes. Onset of the nervous system symptoms happens at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Scaly skin patches and dry skin
- Slowly worsening poor coordination
- Slurred speech (dysarthria)
- Jerky eye movements (nystagmus)
- Decreased reflexes
- Decreased ability to sweat
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, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in ELOVL4 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); Skin, hair, and nail specialists (dermatologists)
- 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 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 lists changes in the ELOVL4 gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: erythrokeratodermia with ataxia; sca34; spinocerebellar ataxia and erythrokeratodermia
Patient organizations
- National Ataxia FoundationSpinocerebellar ataxia type 34 · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Spinocerebellar ataxia type 34.
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