CMT 1A combined with Duchenne muscular dystrophy

[Guest guest]

Eur J Neurol. 2007 Oct;14(10):1182-5.

Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne

muscular dystrophy.

Vondracek P, Hermanova M, Sedlackova J, Fajkusova L, Stary D,

Michenkova A, Gaillyova R, Seeman P, Mazanec R.

Department of Paediatric Neurology, University Hospital and Masaryk

University, Brno, Czech Republic.

We report a 24-year-old male with an unusual combination of two

inherited neuromuscular disorders--Charcot-Marie-Tooth (CMT) disease

type 1A and Duchenne muscular dystrophy (DMD). A phenotypic

presentation of this patient included features of both these

disorders. Nerve conduction studies revealed demyelinating

peripheral neuropathy. Electromyography showed a profound myogenic

pattern. The serum creatine kinase level was highly elevated. Muscle

biopsy revealed a dystrophic picture with deficient dystrophin

immunostaining. CMT1A duplication on chromosome 17p11.2 was found.

The frame-shift mutation c.3609-3612delTAAAinsCTT (p.K1204LfsX11)

was detected in the dystrophin gene by analysing mRNA isolated from

the muscle tissue. The patient inherited both these mutations from

his mother. The combination of CMT1A and DMD has not been reported

as yet.