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- Title
Coexistence of Charcot-Marie-Tooth disease type 1A and chronic inflammatory demyelinating polyradiculoneuropathy with conduction blocks.
- Authors
Shimizu, Kazutaka; Hanajima, Ritsuko; Shimizu, Takahiro; Usui, Ryo; Yanagida, Atsuko; Akutsu, Tsugio; Iizuka, Takahiro; Nishiyama, Kazutoshi
- Abstract
We present a 47-year-old woman with upper extremity muscle weakness and sensory disturbance during a slowly progressive course of leg muscle weakness. First, she was diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy. However, with gene analysis of PMP22 duplication, she was diagnosed with Charcot-Marie-Tooth type 1A. In the electrophysiological study, nerve conduction blocks were shown, which is inconsistent with Charcot-Marie-Tooth type 1A. Intravenous immunoglobulin therapy improved both her symptoms and the conduction blocks. We suggest that inflammatory demyelinating polyradiculoneuropathy was associated with Charcot-Marie-Tooth type 1A in this patient. The presence of the conduction blocks could be a hallmark of the associating inflammatory demyelinating polyradiculoneuropathy. Intravenous immunoglobulin therapy might be partly effective in such patients.
- Subjects
CHARCOT-Marie-Tooth disease; INTRAVENOUS immunoglobulins; MUSCLE weakness; HEREDITARY central nervous system demyelinating diseases; NEURAL conduction; GENETICS; DIAGNOSIS
- Publication
Neurology & Clinical Neuroscience, 2016, Vol 4, Issue 5, p192
- ISSN
2049-4173
- Publication type
Article
- DOI
10.1111/ncn3.12071