CMT 4D: HMSN Lom type in a Serbian family

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Acta Myol. 2008 Oct;27:59-62.

Hereditary motor and sensory neuropathy Lom type in a Serbian family.

Dackoviæ J, Keckareviæ-Markoviæ M, Komazec Z, Rakoceviæ-Stojanoviæ V, Lavrniæ D,

Steviæ Z, Ribariæ K, Romac S, Apostolski S.

Institute of Neurology, Clinical Center of Serbia, Belgrade, Serbia.

Hereditary motor and sensory neuropathy Lom type (HMSNL), also called CMT 4D, a

hereditary autosomal recessive neuropathy, caused by mutation in N-Myc

downstream regulated gene 1 (NDRG1 gene), was first described in a Bulgarian

Gypsy population near Lom and later has been found in Gypsy communities in

Italy, Spain, Slovenia and Hungary.

We present two siblings with HMSNL, female and male, aged 30 and 26,

respectively in a Serbian non-consanguineous family of Gypsy ethnic origin. They

had normal developmental milestones. Both had symptoms of lower limb muscle

weakness and walking difficulties with frequent falls, which began at the age of

seven.

At the age of 12, they developed hearing problems and at the age of 15 hand

muscle weakness. Neurological examination revealed sensorineural hearing loss,

dysarthria, severe distal and mild proximal muscle wasting and weakness,

areflexia and impairment of all sensory modalities of distal distribution.

Electrophysiological study revealed denervation with severe and early axonal

loss. Sensorineural hearing loss was confirmed on electrocochleography and

brainstem evoked potentials. Molecular genetic testing confirmed homozygote

C564t (R148X) mutation in NDRG1 gene.