Participant 102

Participant 102

Elder brother of two brothers with SPNS1

Date of Report


Neontal unconjugated hyperbilirubinemia. 
T2- high signal of white matter periventricular.
RV/LV apical trabeculae. Persistently elevated transaminases (AST & ALT), CK, LDH and myoglobin. Liver-fibrosis. Pathological muscle-biopsy.
High probability of autophagy pathway disorder.


Symptoms / Signs

  • Multi-organ involvement
  • Progressive joint hypomobility, hypermobility
  • Coordination- and balance difficulties
  • Chronic fatigue
  • Exercise intolerance
  • Myopathy
  • Tongue weakness
  • Eye drusen
  • Mild cognitive impairment, delayed cognitive development
  • Kidney stones

Current Treatments

  • None

Prior Treatments

  • None

Considered treatments

  • None

Previously Considered Diagnoses

  • Muscular dystrophy, mitochondrial disease, lysosomal disorders, glycogen storage diseases, for e g Danon disease, Pompe disease.

Genetic Variants of Interest

  • SPNS1


If this participant sounds like you or someone you know, please contact us!

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