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.
N.V. Sundarachary, Head of the Department, Neurology, said the two diseases — Wilson’s disease and Leukodystrophy — could be categorised under rare diseases with an incidence of 1-4 in one lakh people.
Leukodystrophy is caused by the deficiency of an enzyme, Arylsulfatase, and can manifest either during birth or adolescent period. The symptoms include difficulty in walking, pain on the right side of face and regression of mental faculties
While disease progression can be arrested in the case of auto-immune neurological diseases like Guillain-Barré syndrome, there is no treatment for these rare genetic disorders, and patients can be given only symptomatic treatment, Dr. Sundarachary said. 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 the 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, all of them from rural areas, had been reported. More awareness should be created about the ill-effects of consanguineous marriages,” said Dr. Sundarachary.
