Living with Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
A rare inherited condition starting in the teens with slowly worsening balance problems and nerve damage in the arms and legs.
Understanding Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
It starts in late childhood or the teens. Early signs include weakness and wasting of muscles in the hands and feet, absent reflexes, and loss of the sense of pain, vibration and touch. Later, people develop jerky eye movements, slurred speech, nerve damage, a high-stepping walk and high-arched feet. The cerebellum is shrunken in everyone with the condition.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Weakness and wasting of limb muscles
- Absent reflexes
- Loss of feeling in the hands and feet
- High-stepping walk
- 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 TDP1 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 and The Foundation for Peripheral Neuropathy 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, The Foundation for Peripheral Neuropathy
- 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 TDP1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: scan1; spinocerebellar ataxia type 1 with axonal neuropathy; spinocerebellar ataxia with axonal neuropathy; spinocerebellar ataxia with axonal neuropathy type 1
Patient organizations
- National Ataxia FoundationAtaxia · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
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