Living with Spastic ataxia 4
A rare inherited nervous system condition starting in childhood with stiff legs, poor coordination and speech difficulty.
Understanding Spastic ataxia 4
Symptoms start in childhood and include stiff muscles, poor coordination that worsens over time, and slurred speech. People may have frequent falls, delayed movement skills, sudden muscle jerks and involuntary eye movements. Damage to the optic nerve has also been listed.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor coordination that worsens over time
- Stiff legs and arms
- Frequent falls
- Slurred speech (dysarthria)
- Involuntary eye movements (nystagmus)
- Optic nerve damage
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 MTPAP 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 MTPAP gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: autosomal recessive spastic ataxia caused by mutation in mtpap; autosomal recessive spastic ataxia type 4; autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome; autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome; mtpap autosomal recessive spastic ataxia; spastic ataxia type 4
Patient organizations
- National Ataxia FoundationSpastic ataxia 4 · 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 4.
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