Neuromuscular Disorders
A 7-year-old girl is referred for progressive scoliosis. She has developmental regression since age 18 months with loss of purposeful hand movements and acquired microcephaly. She exhibits constant hand-wringing stereotypies, breath-holding episodes, and is non-ambulatory. Genetic testing confirms MECP2 mutation. Spine radiographs show a 45Ā° thoracolumbar curve. Regarding Rett syndrome and orthopaedic management:
Mark each as TRUE or FALSE
Rett syndrome is an X-linked dominant disorder caused by MECP2 mutations affecting methyl-CpG bindin...
Scoliosis occurs in 50-80% of patients with Rett syndrome and is typically progressive; bracing is g...
Hand stereotypies such as wringing and clapping are voluntary movements that can be controlled with ...
Perioperative considerations include high risk of cardiac arrhythmias (prolonged QT syndrome), auton...
Hip pathology includes subluxation and dislocation occurring in 10-15% of patients due to muscle imb...
Answer the questions to see explanations
Click T (True) or F (False) for each option