宝宝ighmbp2基因问题

(2015) reported 5 patients from 3 unrelated families with CMT2S. There was variable severity of the disorder. In 1 family, 1 sib presented at age 6 months with generalized hypotonia and had symptoms of respiratory insufficiency with documented diaphragmatic paralysis. He became wheelchair-bound at age 6 years. Additional features included bladder and gastrointestinal dysfunction with achalasia. His sister presented with delayed motor development and distal muscle weakness at age 2. She did not have respiratory symptoms, but lost free independent ambulation at age 10 and also had bladder and gastrointestinal dysfunction. Three patients from the other 2 families presented between 2 and 6 years of age with pes cavus and/or toe walking, but remained ambulatory between ages 14 and 37 years. None had respiratory symptoms. All patients had absent reflexes and absence of sensory symptoms, although sensory nerve action potentials were absent on electrophysiologic testing, consistent with a sensorimotor neuropathy.

已经发病，参考下这个临床总结。