Living with Spastic ataxia 5
A rare inherited condition starting in childhood with stiff legs, poor coordination, nerve damage and seizures.
Understanding Spastic ataxia 5
Starting in childhood, the legs slowly become stiff and weak and coordination worsens, with slurred speech and swallowing difficulty. Nerve damage causes muscle weakness and wasting in the legs. People also have a type of epilepsy with sudden muscle jerks (progressive myoclonic epilepsy). Droopy eyelids and eye movement problems may occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff, weak legs
- Poor coordination (ataxia)
- Seizures and muscle jerks (myoclonus)
- Nerve damage (neuropathy)
- Trouble swallowing
- Drooping eyelids
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, digestive 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); Digestive system specialists (gastroenterologists); 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 lists changes in the AFG3L2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: afg3l2 (afg3 like matrix aaa peptidase subunit 2) related spastic ataxia, myoclonic epilepsy, neuropathy syndrome; afg3l2 autosomal recessive spastic ataxia; afg3l2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome; afg3l2-related spastic ataxia-neuropathy syndrome; afg3l2-related spastic ataxia, myoclonic epilepsy, neuropathy syndrome; autosomal recessive spastic ataxia caused by mutation in afg3l2
Patient organizations
- National Ataxia FoundationSpastic ataxia 5 · 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 Spastic ataxia 5.
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