The Neurogenetics Clinic in the Department of Neurology is directed by Omar Khan, MD. The Neurogenetics Clinic specializes in treating patients and families who have inherited neurological disorders. Some of the diseases treated include Huntington disease, spinocerebellar ataxias, Freidreich ataxia, neurofibromatosis 1, leukodystrophies (inherited diseases of brain white matter) such as adrenoleukodystrophy, lysosomal storage diseases, tuberous sclerosis, and myotonic dystrophy. Comprehensive, dedicated outpatient clinics for patients with Charcot-Marie-Tooth disease, an inherited peripheral neuropathy, as well as patients with Muscular Dystrophy have also been established within the Department of Neurology and interact and cooperate with our Neurogenetics program. International consortia with the Department of Neurology at WSU SOM as the home institution have been established to study patients with Pelizaeus-Merzbacher disease (PMD) and Charcot-Marie-Tooth disease.
As part of our focus on delivering comprehensive genetic services, we provide genetic testing for aymptomatic individuals at-risk for adult onset inherited disorders such as Huntington disease and the spinocerebellar ataxias. This testing process includes extensive genetic counseling to help both the patient and family make an informed decision about genetic testing and also to prepare them to cope with the results of the testing and its implication. In addition, we work closely with the Reproductive Genetics program at Hutzel Women's hospital and can facilitate referrals for those interested in reproductive testing options.
The Neurogenetics clinic also oversees the comprehensive care of adult patients with hereditary metabolic disorders, such as Fabry disease, mucopolysaccharidosis I, and phenylketonuria. In addition to regular comprehensive care for patients with these complex disorders, we also provide an enzyme replacement therapy center for Fabry disease, Pompe disease and other disorders for which this replacement therapy is available.