Study of Inherited Neurological Disorders

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Study of Inherited Neurological Disorders

This study is currently recruiting patients.

Sponsored by

National Institute of Neurological Disorders and Stroke (NINDS)

[bullet] Purpose

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.

Condition

Peripheral Nervous System Diseases

Muscular Dystrophies

Muscular Diseases

Motor Neuron Disease

Ataxia