At the core, the Leukodystrophy clinic consists of a multidisciplinary team of neurologists, rehabilitation and physical medicine specialists, urologists, endocrinologists, physical therapists, occupational therapists, genetic counselors, and social workers.

These specialists offer comprehensive diagnostic evaluations, counseling for individuals and families, and treatment of leukodystrophies and related white matter diseases in children and adults. This includes an active program to discover the cause of undiagnosed leukodystrophies. Drawing on the broad range of services offered at Kennedy Krieger Institute, individuals can also receive care by other medical and surgical specialists, such as orthopedics, psychiatry, or feeding disorder specialists. Examples of services provided include muscle tone and pain management (Including. Botox), evaluation for gait and balance problems, management of incontinence, management of seizures, management of adrenal dysfunction, management of osteoporosis, and family carrier counseling and gene testing.

The Institute also houses the Clinical Genetics Laboratories, a state-of-the-art facility and international referral center for cytogenetic and biochemical genetics testing. Diagnostic testing is carried out in conjunction with or as a result of both the research effort and the clinical care provided at the Institute. With this close proximity, the laboratory directors and staff can provide timely results and expert interpretations. As an example, we utilize whole exome sequencing technology searching all genes for disease causing mutations, and receive assistance from our in-house expert in bioinformatics to analyze the data. Our team has expertise in genetic counseling providing expert advise to families about their genetic disease and risk of recurrence and modes of inheritance. In addition, if desired by the patient, their families or primary care providers, follow-up clinical and support services are readily available.

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