Living with Autosomal recessive spinocerebellar ataxia 17
A rare inherited condition with slowly worsening balance problems and developmental delay, starting in infancy.
Understanding Autosomal recessive spinocerebellar ataxia 17
People have poor coordination in the arms, legs, and trunk, along with global developmental delay and intellectual impairment. Other signs include shaky eye movements, unclear speech, and a tremor when reaching.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble coordinating walking (gait ataxia)
- Global developmental delay
- Delayed speech and unclear speech
- Shaky eye movements (nystagmus)
- Tremor when reaching (intention tremor)
- Low muscle tone in infancy
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 CWF19L1 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
It is caused by changes in the CWF19L1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive cerebellar ataxia due to cwf19 like cell cycle control factor 1 deficiency; autosomal recessive cerebellar ataxia due to cwf19l1 deficiency; autosomal recessive congenital cerebellar ataxia caused by mutation in cwf19l1; autosomal recessive spinocerebellar ataxia type 17; cwf19l1 autosomal recessive congenital cerebellar ataxia; scar17
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 Autosomal recessive spinocerebellar ataxia 17.
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