Protocol Number: 01-N-0149

Title:

Diagnostic Evaluation of Patients with Neuromuscular Diseases

Number:

01-N-0149

Summary:

This protocol has three purposes: 1) to screen patients with neuromuscular diseases for participation in NINDS's Neuromuscular Diseases Section (NDS) research studies, 2) to train NDS fellows in evaluation of difficult neuromuscular cases, and 3) to provide follow-up for patients who have finished participating in a previous study and not enrolled in another. This study will not use investigational treatments.

Patients who 1) have a neuromuscular disorder suitable for a current or future research protocol, 2) present a diagnostic puzzle, or 3) have an unusual manifestation of a more usual neuromuscular condition may be eligible for this study. Neuromuscular disorders may include peripheral neuropathies, myopathies, dystrophies, myasthenia, stiff person syndrome, muscle cramps and pains, myotonias, motor neuron diseases and post-polio syndrome.

Participants may undergo the following diagnostic studies:

- Blood drawing - No more than 100 ml (less than 4 ounces) of blood will be drawn.

- Electromyography (EMG) and nerve conduction studies - EMG measures the electrical activity of muscles by inserting a needle through the skin into a muscle to record the electrical activity. The nerve conduction study evaluates nerve function in the arms and legs by measuring the speed with which nerves conduct electrical impulses. A wire is taped on the skin over a nerve to deliver a small electrical shock and another wire taped to the skin records the impulses.

- Muscle and nerve biopsy - Diagnoses and characterizes muscle or nerve problems, such as numbness, weakness, muscle cramps, etc. For the muscle biopsy small piece of muscle tissue about the size of a lima bean is taken from a muscle in the arm or leg for examination under the microscope. For the nerve biopsy a piece of nerve from the ankle is removed. These procedures are done in the operating room under local anesthetic.

- Ischemic exercise test - Determines if fatigue after exercise or exercise intolerance and muscle weakness are caused by inability of muscles to effectively use blood sugar-the source of energy for cells. For this test, a small needle is inserted into an arm vein and taped in place, and blood specimens are drawn. Then a tourniquet is placed around the upper arm and the patient squeezes a rubber bulb until he or she either can no longer continue or develops a cramp (this usually occurs within 1- 1 1/2 minutes). After the exercise, the tourniquet is removed and small amounts of blood are drawn through the same needle at various intervals for up to 10 minutes. The total amount of blood drawn for this test will not exceed 40 ml (less than 1- 1 1/2 ounces).

Sponsoring Institute:

National Institute of Neurological Disorders and Stroke (NINDS)

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: Yes

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

Research patients will be studied under this protocol if they fulfill the following criteria:

Have an identifiable neuromuscular disorder that may be suitable for a specific current or future protocol;

Present a diagnostic puzzle in spite of the previously performed diagnostic work-up;

Have unusual manifestation of a more usual neuromuscular disease;

Have a disorder useful for teaching purposes.

Patients should be referred by a physician who will continue their care after our evaluation.

Special Instructions: Currently Not Provided

Keywords:

Myopathy

Dystrophy

Neuropathy

Muscle Weakness

Muscle Cramps and Pains

Recruitment Keywords:

Neuromuscular Disorders

Myopathy

Neuropathy

Dystrophy

Muscle Weakness

Conditions:

Neuromuscular Disease

Investigational Drug(s):

None

Investigational Device(s):

None

Contacts:

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations: Not Provided

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Networks and Applications, CC.

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Bethesda, Maryland 20892. Last update: 10/23/2004