The goals of this protocol is to diagnose, care for, and understand the clinical histories and outcomes of people with leukodystrophies.
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Eligibility Criteria
Inclusion Criteria:
* evidence by clinical exam, radiological findings, and/or testing, of an inherited leukodystrophy.
* be able to travel to the leukodystrophy clinic (at Primary Children's Hospital, Salt Lake City, Utah);
* be able to tolerate a general physical exam, and a neurological exam.
E…
Inclusion Criteria:
* evidence by clinical exam, radiological findings, and/or testing, of an inherited leukodystrophy.
* be able to travel to the leukodystrophy clinic (at Primary Children's Hospital, Salt Lake City, Utah);
* be able to tolerate a general physical exam, and a neurological exam.
Exclusion Criteria:
* unable to be evaluated at the University of Utah Hospital or Primary Children's Hospital;
* refusal to sign study consent form;
* evidence or finding of another non-genetic cause of their condition;
* Persons with known white matter disease or lesions related to: birth injury or prenatal injury, multiple sclerosis, trauma, infection, immunization, or post-infectious effects (e.g. ADEM- acute disseminated encephalomyelitis), metabolic disturbance (e.g. Central pontine myelinolysis), neoplasms, primary rheumatologic diseases (e.g. Systemic lupus erythematosis), stroke, hypoxic-ischemic injury, drug or toxin effect, seizures, or endocrine disturbance.
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