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We report two siblings of Indian origin with no known consanguinity who presented with early onset severe Charcot-Marie-Tooth (CMT) disease. They demonstrated features of CMT type 1 and CMT type 2J. Genetic analysis confirmed heterozygosity in both siblings, carrying peripheral myelin protein 22 (PMP22) duplication and a novel variant myelin protein zero (MPZ) mutation. Each parent contributed to one of the two mutations. Pupil abnormalities were the key to the diagnosis of compound CMT disease in this kindred, and we encourage further genetic testing in atypical CMT disease cases. We also propose that MPZ mutations should be preferentially tested in the presence of pupil abnormalities.
Proband 1 (III:6)
The 33-year-old elder sister presented with muscle wasting in the hands coupled with walking difficulty. She had delayed walking aged 18 months, and was unable to take part in sports. She developed pes cavus, grip weakness and reduced sensation in all extremities in her teenage years. She had corrective surgery for scoliosis and tendon transfers of her feet. She continued to deteriorate and required the use of a mobility scooter. Neurological examination showed findings of a severe sensorimotor neuropathy, with reduced tone, severe symmetrical distal weakness in both upper and lower limbs with wasting, areflexia, reduced distal sensation in all modalities and sensory ataxia. There was tongue fasciculation and mild sensorineural hearing loss in the …
Contributors TY wrote the article, clinically assessed the subjects, performed most of the literature search and organised clinical photography. NS directed the photography and interpreted findings. JP clinically assessed the subjects and other family members, in addition to collecting information for the family tree. FDB performed pupillometry with a full report, and revised the article. The patients were under the care of DN who was responsible for the concept, design and revision of the article.
Competing interests None.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.