Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0037315 (sleep apnea)
 8,000 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease) is characterized by chronic degeneration of peripheral nerves and roots, resulting in distal muscle atrophy, beginning in the feet and legs and later involving the hands. The association of this disease with diaphragmatic dysfunction has not been reported. We studied a patient with hereditary motor and sensory neuropathy type 1 (Charcot-Marie-Tooth disease) and type 2 diabetes mellitus who had severe diaphragmatic impairment. Some of the clinical findings are similar to the sleep apnea syndrome, which could lead to incorrect diagnosis and delay in the administration of appropriate therapy. Transdiaphragmatic pressure studies on the subject's brother, who also has Charcot-Marie-Tooth disease and type 2 diabetes mellitus, revealed subclinical impairment of diaphragmatic function. These findings suggest that phrenic nerve involvement may be part of the spectrum of polyneuropathy in Charcot-Marie-Tooth disease in association with diabetes mellitus.
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PMID:Diaphragmatic dysfunction in siblings with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). 382 50