Living with Infantile onset spinocerebellar ataxia
A progressive nervous system disorder in which babies develop normally, then lose coordination in early childhood.
Understanding Infantile onset spinocerebellar ataxia
Babies develop normally in the first year. In early childhood they start having trouble coordinating movements, very weak muscle tone, writhing limb movements, and decreased reflexes. By the teenage years, people need wheelchair help. Vision and hearing problems begin by about age 7.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Weak muscle tone and reduced reflexes
- Writhing movements of the limbs (athetosis)
- Weakness of the eye muscles (ophthalmoplegia)
- Hearing loss and vision loss from optic nerve damage
- Autonomic problems, such as sweating, bladder trouble, and constipation
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 TWNK 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
Changes in the TWNK gene cause this condition. GARD lists autosomal recessive inheritance, meaning a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in twnk; infantile-onset spinocerebellar ataxia; iosca; mitochondrial dna depletion syndrome 7 (hepatocerebral type); mitochondrial dna depletion syndrome type 7; mtdps7
Patient organizations
- National Ataxia FoundationInfantile onset spinocerebellar ataxia · 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 Infantile onset spinocerebellar ataxia.
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