HMSN-Lom - first Hungarian case report

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Ideggyogy Sz. 2007 Jan 20;60(1-2):51-5.

Hereditary motor and sensory Neuropathy-Lom--first Hungarian case

report

Szabo A, Siska E, Molnar MJ.

Neurologiai Klinika, Debrecen.

Hereditary motor and sensory neuropathy-Lom is an autosomal

recessive disorder of the peripheral nervous system, which occurs

only in the european Roma population. The symptoms start in the

first decade with slowly progressive gait disturbance, weakness and

wasting of distal upper extremity muscles, joint deformities and

hearing loss develop later in the second and third decades. This

disorder is caused by a homozygous missense mutation of the NDRG1

gene, located in the 8q24 region. The Schwann cell dysfunction is

most probably caused by altered lipid metabolism as a consequence of

the NDRG1 mutation. Molecular genetic testing can be a first

diagnostic step among roma individuals showing a Lom neuropathy

phenotype, making evaluation of such patients and also genetic

counselling faster and easier. Screening for hereditary

neuromuscular disorders in this genetically isolated community may

become an important public health issue in the near future.