Spinal musclular atrophy, X-linked, infantile, SMAX2 - UBE1

Klinische Symptomatik

UBE1 mutations have been identified in X-linked spinal muscular atrophy, a  disorder presenting with multiple congenital contractures (arthrogryposis multipley congenita) and frequently bone fractures. The clinical features of hypotonia, arreflexia, signs of neurogenic atrophy in EMG and muscle biopsy, and infantile death due to respiratory insufficiency are characteristic. Like in other SMA the pathogenic mechanism is a loss of anterior horn cells.

Genetik

The ubiquitin dependent proteolysis system (UPS) is a fundamental cellular mechanism for regulating protein activity. Ubiquitin-activating enzyme 1 (UBE1) codes for the ubiquitin-activating enzyme E1 that initiates the activation and conjugation of ubiquitin-like proteins.

 

Diagnostik