This study is currently recruiting participants.
Number
00-N-0043
Sponsoring Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 2 Years Max Age: 120 Years
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
Myopathy; Muscular Dystrophy; Motor Neuron Disease
Recruitment Keyword(s)
Condition(s)
Motor Neuron Disease; Muscular Disease; Muscular Dystrophy; Peripheral Nervous System Disease
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Institute of Neurological Disorders and Stroke
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.
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Participants include those with inherited neurological conditions based on the training and research needs of the Neurogenetics Branch program. There is no logical limit; however the total number of participants that can be enrolled in the protocol will be restricted. No more than 3,500 participants with either diagnosed or undiagnosed neurological conditions and their unaffected relatives will be enrolled in this evaluation and diagnostic protocol. INCLUSION CRITERIA: Participants will be eligible if they: -Have either a known or suspected, inherited neurological disease, OR are an unaffected relative (first-, second-, third, or higher degree relative) of a participant with a genetic neurological disease. -Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children or a legal guardian to provide consent for adults without consent capacity. -Aged 2 years and above. EXCLUSION CRITERIA: Participants will not be eligible if they: -Have a systemic disease that compromises the ability to provide adequate neurologic examination or diagnosis.An example of this would be a contagious disease that would compromise our ability to do an adequate neurological exam.
INCLUSION CRITERIA:
Participants will be eligible if they:
-Have either a known or suspected, inherited neurological disease, OR are an unaffected relative (first-, second-, third, or higher degree relative) of a participant with a genetic neurological disease.
-Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children or a legal guardian to provide consent for adults without consent capacity.
-Aged 2 years and above.
EXCLUSION CRITERIA:
Participants will not be eligible if they:
-Have a systemic disease that compromises the ability to provide adequate neurologic examination or diagnosis.An example of this would be a contagious disease that would compromise our ability to do an adequate neurological exam.
Principal Investigator
Referral Contact
For more information: