Living with Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
A rare inherited condition with repeated episodes of liver failure in infancy, plus balance, nerve, and movement problems.
Understanding Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Babies have repeated episodes of acute liver failure, which can lead to scarring of the liver (fibrosis) and an enlarged liver and spleen. Other features include delayed motor development, balance and walking problems, tremor, stuttering, and weakness and numbness, mostly in the lower legs. Some people have mild intellectual disability.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sudden liver failure
- Enlarged liver and spleen
- Delayed development
- Trouble with balance when walking (gait ataxia)
- Weakness in the lower legs
- Shaking when reaching for things (intention tremor)
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 SCYL1 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 and The Foundation for Peripheral Neuropathy 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, The Foundation for Peripheral Neuropathy
- 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 SCYL1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome; autosomal recessive spinocerebellar ataxia 21 with hepatopathy; autosomal recessive spinocerebellar ataxia type 21; calfan syndrome; cholestasis, low ggt, acute liver failure, and neurodegeneration syndrome; scar21
Patient organizations
- National Ataxia FoundationAtaxia · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome.
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