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Clinical and Molecular Manifestations of Inherited Neurological Disorders
This study is currently Recruiting
December 2010 By National Institutes of Health Clinical Center (CC)
First Recieved on February 11, 2000
Last Updated on January 20, 2011
This study is designed to learn more about the natural history of inherited neurological
disorders and the role of heredity in their development. It will examine the genetics,
symptoms, disease progression, treatment, and psychological and behavioral impact of
diseases in the following categories: hereditary peripheral neuropathies; hereditary
myopathies; muscular dystrophies; hereditary motor neuron disorders; mitochondrial
myopathies; ataxias; hereditary neurocognitive disorders; inherited neurological disorders
without known diagnosis; and others. Many of these diseases, which affect the brain, spinal
cord, muscles, and nerves, are rare and poorly understood.
Children and adults of all ages with various inherited neurological disorders may be
eligible for this study. Participants will undergo a detailed medical and family history,
and a family tree will be drawn. They will also have a physical and neurological
examination that may include blood test and urine tests, an EEG (brain wave recordings),
psychological tests, and speech and language and rehabilitation evaluations. A blood sample
or skin biopsy may be taken for genetic testing. Depending on the individual patient's
symptoms, imaging tests such as X-rays, CT or MRI scans and muscle and nerve testing may
also be done.
Information from this study may provide a better understanding of the genetic underpinnings
of these disorders, contributing to improved diagnosis, treatment, and genetic counseling,
and perhaps leading to additional studies in these areas.
Resources/Links provided by NLM:
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- INCLUSION CRITERIA:
Patients of all ages will be considered for the study. The general health and well being
of each potential participant must be sufficient to allow for travel to the NIH, blood
drawing, and as indicated, skin or muscle biopsy, pulmonary and cardiac evaluations,
physical therapy assessments, and magnetic resonance imaging, studies if necessary under
In particular, families with more than one affected relative or families with known
consanguinity will be sought, as the incidence of a recessive disorder is increased in
such a setting.
Subjects without a suspected inherited neurological disorder will be excluded from this
For positional cloning and the homozygosity study in Mali, samples from healthy controls
will be requested.