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Rare muscle diseases list

Because these diseases are rare, many people with metabolic disorders of muscle have to spend some time figuring out what is causing their muscle weakness, myoglobinuria or other symptoms. But it's important to get an accurate diagnosis of a specific metabolic myopathy so the affected person can modify diet and exercise, and monitor potentially serious disease effects.

The diagnostic process usually begins with a careful medical history, a physical exam and a neurological exam to test reflexes, strength and the distribution of weakness. Several specialized tests are used to confirm a suspected diagnosis of metabolic disease:

Blood tests can be used to detect the presence of certain chemicals in the blood that may indicate some metabolic diseases.

An exercise test is used to monitor a person’s response to intense or moderate exercise. Blood samples are taken during exercise for testing.

Electromyography (EMG) uses small needle electrodes to measure the electrical currents in a muscle as it contracts. While an EMG can’t definitively diagnose metabolic disease, it can be used to rule out a number of other types of neuromuscular disease that cause similar patterns of weakness.

A muscle biopsy requires the removal of a small piece of muscle tissue for microscopic analysis. The procedure is done either surgically, with an incision to expose the target muscle or with a needle. A skin biopsy also is sometimes performed.

Other tests that may be needed include an electrocardiogram to test heart function, and brain imaging studies such as CT or MRI scans.

Genetic tests, using a blood sample, can analyze the person’s genes for particular defects that cause metabolic disease, but these tests often aren’t necessary for diagnosis or for determining treatment. For more on getting a definitive genetic diagnosis, see The Genie's Out of the Bottle: Genetic testing in the 21st century.

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Popular Q&A

What is a rare metabolic disorder?

Rare = Infrequently occurring, uncommon or unusual.
Metabolic = Of, or pertaining to the complex of physical and chemical processes involved in the maintenance of life.
Disorder = A condition in which there is a disturbance of normal functioning. That is in direct answer to your question. If you are asking for the name of one of these rare disorders, then I will offer one at random - phenylketonuria (PKU), which is an autosomal recessive disorder caused by mutation of the gene for a key enzyme involved in phenylalanine metabolism.
Hope this helps
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