Symptoms

Physical Symptoms

• 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

Clinical Symptoms

• 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

Neurologic Symptoms

• Global developmental delay
  • Difficulty with or unable to walk
  • Most are non-verbal
  • Test significantly below average on cognitive skills tests
• Diminished reflexes
• Seizures
  • 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.