Hereditary Motor and Sensory Neuropathy with Hypercapnic Respiratory Failure and Recurrent Rhabdomyolysis: A Case Report and Literature Review

Hereditary motor and sensory neuropathy (HMSN), formerly known as Charcot-Marie-Tooth (CMT), is the most common inherited neuromuscular disease. It is characterized by a heterogeneous inheritance pattern and variable age of onset of symptoms and disease severity. HMSN primarily affects long peripheral nerves, leading to distal weakness and muscle atrophy involving lower and upper extremities, culminating in various degrees of disabilities. Phrenic nerve involvement resulting in diaphragm dysfunction and respiratory failure has been described in advanced HMSN disease. We describe a 39-year-old woman with HMSN and recurrent episodes of rhabdomyolysis who presented with hypercapnic respiratory failure. Her symptoms were thought to be due to diaphragm paralysis. She required intubation and mechanical ventilation and was extubated successfully and transitioned to noninvasive positive pressure ventilation (NIPPV). She was discharged home after recovery with NIPPV at night in addition to physical and occupational therapy.

Keywords:Hereditary motor and sensory neuropathy; Charcot-Marie-Tooth; Rhabdomyolysis; Creatine kinase; diaphragm paralysis; phrenic nerve; Noninvasive positive pressure ventilation; Respiratory failure

Abbreviations:HMSN: Hereditary Motor and Sensory Neuropathy; CMT: Charcot-Marie-Tooth; CK: Creatine Kinase; NIPPV: Noninvasive Positive Pressure Ventilation; NCVS: Nerve Conduction Velocity Study; EMG: Electromyography