Phenotype/Genotype Correlations in Neuromuscular Disorders
| Status: | Completed |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/21/2016 |
| Start Date: | June 2001 |
| End Date: | May 2007 |
Phenotype/Genotype Correlations in Inherited Myopathies
The Neuromuscular Diseases Section (NDS) is conducting research on certain inherited
myopathies and neuropathies, disorders that lead to disability and sometimes death. NDS,
along with other groups, has identified some disease-causing genes. The National Institutes
of Health Clinical Center proposes new research to identify additional hereditary
neuromuscular diseases and conduct genetic studies in order to localize, clone, and
characterize the diseases.
An expected 50 patients with known or suspected inherited myopathy or neuropathy and their
families will be recruited for this study. If travel to the Clinical Center is impossible,
investigators may come to them to do the tests. Ten to twenty cubic centimeters of blood
will be drawn for DNA extraction and genotyping. Some abnormal movements of muscle atrophy
will be documented by videotaping. If necessary, diagnostic laboratory and radiographic
studies will be done to confirm diagnosis. Because the diseases are hereditary, blood may
also be drawn from family members. The family will be counseled and the participants invited
back annually to investigate the progression of the disease.
Each participant will be evaluated by a history and initial neurological exam. Up to another
20 mL of blood will be drawn for routine blood studies. Other medical care procedures may
include a chest x-ray, EKG and echocardiogram, CT (computed tomography) or MRI (magnetic
resonance imaging) scan, pulmonary function tests, and physical therapy assessment. Possible
research procedures may include MR spectroscopy, nerve conduction study, electromyography,
muscle or nerve biopsy, and lumbar puncture.
The researchers have decided not to inform the family if nonpaternity or adoption is
discovered by the DNA genotyping. Also, because a carrier of the disease gene may not
necessarily develop the disease, family members will not be informed if they are carriers.
myopathies and neuropathies, disorders that lead to disability and sometimes death. NDS,
along with other groups, has identified some disease-causing genes. The National Institutes
of Health Clinical Center proposes new research to identify additional hereditary
neuromuscular diseases and conduct genetic studies in order to localize, clone, and
characterize the diseases.
An expected 50 patients with known or suspected inherited myopathy or neuropathy and their
families will be recruited for this study. If travel to the Clinical Center is impossible,
investigators may come to them to do the tests. Ten to twenty cubic centimeters of blood
will be drawn for DNA extraction and genotyping. Some abnormal movements of muscle atrophy
will be documented by videotaping. If necessary, diagnostic laboratory and radiographic
studies will be done to confirm diagnosis. Because the diseases are hereditary, blood may
also be drawn from family members. The family will be counseled and the participants invited
back annually to investigate the progression of the disease.
Each participant will be evaluated by a history and initial neurological exam. Up to another
20 mL of blood will be drawn for routine blood studies. Other medical care procedures may
include a chest x-ray, EKG and echocardiogram, CT (computed tomography) or MRI (magnetic
resonance imaging) scan, pulmonary function tests, and physical therapy assessment. Possible
research procedures may include MR spectroscopy, nerve conduction study, electromyography,
muscle or nerve biopsy, and lumbar puncture.
The researchers have decided not to inform the family if nonpaternity or adoption is
discovered by the DNA genotyping. Also, because a carrier of the disease gene may not
necessarily develop the disease, family members will not be informed if they are carriers.
The goal of this protocol is to identify families with inherited neuromuscular disorders,
evaluate disease manifestations to establish an accurate clinical diagnosis by using newest
technological advances and investigate the underlying molecular mechanisms. Studies of
inherited myopathies in large families with good genealogical records are especially
valuable. Patients with diseases of known molecular basis will be genotyped to conduct
analysis of phenotype/genotype correlation. Patients with diseases of unknown or incomplete
genetic characterization will be studied with a hope of contributing to the identification
of specific disease-causing genes and to genetic mechanisms responsible for a specific
disorder.
evaluate disease manifestations to establish an accurate clinical diagnosis by using newest
technological advances and investigate the underlying molecular mechanisms. Studies of
inherited myopathies in large families with good genealogical records are especially
valuable. Patients with diseases of known molecular basis will be genotyped to conduct
analysis of phenotype/genotype correlation. Patients with diseases of unknown or incomplete
genetic characterization will be studied with a hope of contributing to the identification
of specific disease-causing genes and to genetic mechanisms responsible for a specific
disorder.
- INCLUSION CRITERIA:
Patients of all ages with known or suspected inherited myopathies or neuropathies or
neuropathies and their families will be considered as potential candidates for the study.
Pregnant women will be included.
Family members of studied patients who express interest in participating will be also
accepted.
Willingness and legal ability to give and sign informed study consent.
Willingness to travel to the Clinical Center for evaluation if necessary.
Willingness to submit tissue for testing this may include muscle, nerve and peripheral
blood.
EXCLUSION CRITERIA:
People with no known or suspected inherited myopathies or neuropathies.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
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