Living with Autosomal recessive cerebellar ataxia with late-onset spasticity
An inherited condition with balance problems that begin in childhood or the teen years, followed by muscle stiffness.
Understanding Autosomal recessive cerebellar ataxia with late-onset spasticity
It starts in childhood or the teen years with balance problems (ataxia) and unclear speech. Over time, muscle stiffness (spasticity) appears in the arms and legs, along with brisk reflexes. Nerve damage affecting feeling or movement is variable. Some people have high-arched feet, scoliosis, or brain changes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble with balance when walking (gait ataxia)
- Muscle stiffness (spasticity), especially in the legs
- Brisk reflexes
- Shaky eye movements (nystagmus)
- Trouble swallowing (dysphagia)
- Nerve damage affecting feeling and movement
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 GBA2 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 GBA2 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 gba2 (glucosylceramidase beta 2) deficiency; autosomal recessive cerebellar ataxia due to gba2 deficiency
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 cerebellar ataxia with late-onset spasticity.
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