Three persons, including a 15-year-old girl, have been diagnosed at the Government General Hospital here with rare genetic disorders arising out of consanguineous marriages.
Head of the Department of Neurology N.V. Sundarachary said that the two diseases — Wilson’s disease and Leukodystrophy— can be categorised under rare diseases with an incidence of 1-4 in 1 lakh people.
Leukodystrophy is caused by the deficiency of an enzyme, Arylsulfatase, and can manifest either during birth or during the adolescent period.
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The symptoms include difficulty in walking, pain on the right side of face and regression of mental faculties. “The condition of Dysmyelination arises out of consanguineous marriages wherein the myelin sheath - the lipid layer covering the brain cells - is not formed adequately affecting the transmission of electrical signals from the brain to parts of the body,” Dr. Sundarachary told
Only symptomatic treatment
While disease progression can be arrested in the case of auto immune neurological diseases like Guillain–Barré syndrome (GBS), there is unfortunately no treatment for these rare genetic disorders and patients could only be given symptomatic treatment.
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The other symptoms of the disease include slurring of speech, shaking of hands and incoherent gait.
Wilson’s disease is also a genetic disorder and is caused by accumulation of copper cells in bodily tissues. The progression of the disease is often fatal leading to a severe condition, including liver failure.
Three cases
“Three cases, all of them from rural areas, have been reported. More awareness should be created about the ill-effects of consanguineous marriages in rural and tribal areas, where they are rampant,’’ said Dr. Sundarachary.
No cure available for the two diseases that arise out of consanguineous marriages