As Clinical Director of the multidisciplinary Neurogenetics Program, Dr. Sampson cares for patients and families with a variety of disorders including hereditary ataxias, hereditary spastic paraparesis, familial chorea (including McLeod's neuroacanthocytosis), oculodentodigital dysplasia, neurofibromatosis, tuberous sclerosis, CADASIL and other familial early onset stroke, as well as other familial neurological disorders. She offers transitional care for adults with neurogenetic disorders diagnosed in childhood. She also offers testing* and care for adult family members at risk for neurogenetic disorders diagnosed in a pediatric family member.
Dr. Sampson also sees patients in the Eleanor and Lou Gehrig MDA/ALS Multidisciplinary Care Center, where her expertise includes the diagnosis and care of individuals with myotonic dystrophy type 1 and 2, amyotrophic lateral sclerosis, limb-girdle myopathies, metabolic and mitochondrial myopathies, Duchenne and Becker muscular dystrophy, Friedreich's ataxia, periodic paralysis, and Charcot-Marie Tooth neuropathies.
* Genetic testing for neurogenetic disorders involves diagnostic guidance, genetic counseling, interpretation of results and their validity, education of the patient and family, and care recommendations.
Condition | Study Title |
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Neuromuscular | [ CLOSED ] A study for male adolecents with muscular dystrophy using study drug Eteplirsen |