- Overall hypotonia/low tone as well as tightness/contractures in ankles and wrists.
- Complex hyperkinetic movement disorder which makes it difficult for the patients to walk, sit, feed themselves etc. More severe when younger.
- Lack of tears as most patients have very dry eyes resulting in bad eye infections when not properly taken care of.
- Smaller head (microcephaly)
- Lack of sweat which makes it difficult for patients to regulate their body temperature in warm weather.
- Difficulty with swallowing causing aspiration
- Small feet and hands
- Cerebral visual impairment (CVI)
- Liver dysfunction: Patients present with elevated liver transaminases such as AST, ALT and sometimes AFP. Liver values may trend toward the normal range over time.
- Low protein in urine and CSF
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- Global developmental delay
- Difficulty with or unable to walk
- Most are non-verbal
- Test significantly below average on cognitive skills tests
- Diminished reflexes
- Common seizure types include sudden jerks or startles (myoclonic), drops (atonic) and staring spells (absence).
- Seizures are generally multi-focal.
- Patient EEGs are often described as “abnormal.”
- Peripheral neuropathy with additional demyelinative features in some patients
- Auditory Neuropathy: Many patients show abnormal findings on auditory brainstem response (ABR). Their ears function normally, but the processing of the sound in the brain is abnormal.
- Sleep disorders:
- Many patients show a disturbed sleep pattern, especially at a young age.
- Apnea: Many have been diagnosed with obstructive and/or central sleep apnea.