Living with Spinocerebellar ataxia type 28
An inherited condition with slowly worsening balance and eye movement problems, often starting in early adulthood.
Understanding Spinocerebellar ataxia type 28
It can also affect children and older adults. Early signs include poor coordination and balance when walking, slurred speech and swallowing trouble, strong reflexes in the knees and ankles, weak eye muscles, jerky eye movements and drooping eyelids. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor coordination when walking
- Slurred speech (dysarthria)
- Drooping upper eyelids (ptosis)
- Jerky eye movements (nystagmus)
- Weak eye muscles
- Strong reflexes in the legs
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 AFG3L2 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, United Mitochondrial Disease Foundation and MitoAction 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, United Mitochondrial Disease Foundation, MitoAction
- 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 says it is caused by changes in the AFG3L2 gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: sca28
Patient organizations
- National Ataxia FoundationSpinocerebellar ataxia type 28 · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Spinocerebellar ataxia type 28.
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