An Elderly Woman with Complaints of Pain and Hearing Loss, Diagnosed with CMT1A with PMP22 Duplication

Charcot-Marie-Tooth (CMT) disease is a heterogeneous hereditary motor and sensory neuropathy of the peripheral nervous system, with CMT1A in particular being the most common form. We encountered a 76-year-old woman with CMT1A who had a history of pain attacks and hearing loss from a young age, with...

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Veröffentlicht in:	Internal Medicine 2024/01/15, Vol.63(2), pp.315-318
Hauptverfasser:	Takegami, Naoki, Hamada, Masashi, Yamaguchi-Takegami, Nanaka, Sakuishi, Kaori, Toda, Tatsushi
Format:	Artikel
Sprache:	eng
Schlagworte:	Aged Case Report Charcot-Marie-Tooth disease Charcot-Marie-Tooth Disease - complications Charcot-Marie-Tooth Disease - diagnosis Charcot-Marie-Tooth Disease - genetics CMT1A Deafness Female Hearing loss Hearing Loss - etiology Hearing Loss - genetics Hereditary Sensory and Motor Neuropathy Humans Myelin Proteins - genetics nerve conduction study Nervous system Neuropathy Pain Peripheral myelin protein 22 Peripheral neuropathy PMP22
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Zusammenfassung:	Charcot-Marie-Tooth (CMT) disease is a heterogeneous hereditary motor and sensory neuropathy of the peripheral nervous system, with CMT1A in particular being the most common form. We encountered a 76-year-old woman with CMT1A who had a history of pain attacks and hearing loss from a young age, with motor symptoms manifesting late in life. Her pain and hearing loss may have been related to CMT. Our case also raises the possibility that neuropathic pain and hearing loss may precede the classic motor symptoms of CMT1A.
ISSN:	0918-2918 1349-7235
DOI:	10.2169/internalmedicine.1883-23