Phrenic Nerve and CMT 1 Breathing

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Phrenic Nerve and CMT 1 Breathing

Rinsho Shinkeigaku. 2002 Apr;42(4):320-2.

A case of Charcot-Marie-Tooth disease (CMT) type 1 complicated by diabetes

mellitus (DM) showing bilateral phrenic nerve palsy

• Takakura Y,

• Furuya H,

• Yamashita K,

• Murai H,

• Araki T,

• Kikuchi H,

• Ohyagi Y,

• Yamada T,

• Kira J.

Department of Neurology, Neurological Institute, Graduate School of Medical

Sciences, Kyushu University.

We here report a 44-year-old woman with Charcot-Marie-Tooth disease (CMT) type 1

who showed severe bilateral phrenic nerve palsy (PNP). She had chronic

progressive distal dominant muscle weakness and atrophy since early in her

second decade and had been unable to walk by herself due to weakness of the legs

since she was 40-years old. At that time, she was diagnosed with diabetes

mellitus (DM).

She also had difficulty breathing when she was in a supine position. On

admission, sural nerve biopsy showed a marked decrease of large and small

myelinated fibers and numerous onion bulb formations, which are compatible with

CMT type 1. Chest X-ray showed bilateral elevation of the diaphragm, which was

more marked on the right side, indicating bilateral PNP.

Since it is reported that CMT patients show demyelination of the phrenic nerve

subclinically, and DM itself may facilitate the development of PNP, periodic

evaluations of respiratory function may thus be useful for preventing

respiratory failure in patients with CMT, especially when it is complicated with

DM.