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Genetic and Rare Diseases Information Center (GARD)

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Brody myopathy


Other Names for this Disease

  • Brody disease
  • Sarcoplasmic reticulum -Ca2+ATPase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Could you tell me in laymen's terms what is Brody disease?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Brody disease?

Brody disease is a type of myopahty or "disease of muscle." Signs and symptoms include difficulty relaxing muscles and muscle stiffness following exercise. The condition tends to be inherited in an autosomal recessive fashion. Some cases of Brody disease are caused by mutations in a gene called “ATP2A1,” for other cases the underlying genetic defect has not been identified.[1][2]
Last updated: 3/20/2009

What are the symptoms of Brody disease?

Symptoms of Brody disease typically begin in childhood. Children with this condition may have a hard time keeping up with their peers in physical activities. They have a difficult time relaxing muscles, first in their arms and legs, but then in their face and trunk. They may also have difficulty relaxing their eyelids and grip. These muscle symptoms worsen with exercise and exposure to cold weather.[2]

In people with Brody disease, the term “pseudomyotonia” is used to describe these muscle symptoms. The term “myotonia” refers to muscle stiffness or an inability to relax the muscles and can be evidenced by abnormal electromyography (EMG) results. In Brody disease the EMG results are normal, even though the person show signs of the muscle stiffness. Because of the normal EMG results, the word “pseudo-myotonia” is used.[2]

In addition to the pseudomyotonia, people with Brody disease sometimes develop myoglobinuria. Myoglobinuria is the abnormal breakdown of the muscle protein, myoglobin. Click here to learn more about testing for myoglobinuria.[2]

People with Brody disease do not tend to have percussion myotonia. A doctor may test for percussion myotonia by mildly tapping on a muscle and watching how the muscle responds. Percussion myotonia is a symptom in other muscle disorders.[2]
Last updated: 3/20/2009

What causes Brody disease?

Brody disease can be caused by mutations in the gene ATP2A1. In general, genes contain the information needed to make functional molecules called proteins. These proteins are required for our bodies cells (and ultimately tissues, like our muscles) to work correctly. Gene mutations can result in faulty proteins.

The ATP2A1 gene tells the body how to make a protein called SERCA Ca(2+)-ATPase. This protein is involved in moving calcium around in the cell, which is important for normal muscle contraction.[2][3] Mutations in this gene results in problems with calcium transportation in the cell, and ultimately problems with muscle contraction.

Not all people with Brody disease have mutations in the ATP2A1 gene. There are likely other gene mutations, that have not yet been identified, that can cause this disease.[4]
Last updated: 3/20/2009

How rare is Brody disease?

Brody disease is thought to be rare based upon the few number of reported cases in the medical literature. Around 20 cases have been recorded in the literature.[2]
Last updated: 3/20/2009

How is Brody disease diagnosed?

Brody disease is suspected in people with the characteristic symptoms of this disorder (e.g., peudomyotonia, myoglobinuria etc...). In addition, people with this disease may have normal or slightly elevated creatine kinase levels. Click here to learn more about creatine kinase testing. A careful evaluation of muscle tissue samples obtained from muscle biopsy shows type 2 A and B atrophy with angulated fibers. Also, biochemical and immunological testing of the activity of certain proteins in the cell (i.e., sarcoplasmic reticulum Ca2+ ATPase) can also help confirm the diagnosis.[2]
Last updated: 3/20/2009

How might Brody disease be treated?

There have been case reports describing treatment of Brody disease with the muscle relaxant, dantrolene and with calcium channel blockers with varying success.[2]
Last updated: 3/20/2009

Is Brody disease genetic?

Yes. Brody disease is genetic and is usually inherited in an autosomal recessive fashion, however cases of autosomal dominant inheritance have also been reported.[4]
Last updated: 3/20/2009

What is autosomal recessive inheritance?

Autosomal recessive inheritance refers to the inheritance pattern in which two mutated copies of the gene that causes a disorder are present in each cell. An affected person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). Autosomal recessive disorders are typically not seen in every generation of an affected family. When two people who are carriers of an autosomal recessive condition have a child, there is a 25% (1 in 4) chance that the child will be affected.[5]

Last updated: 2/18/2009

What is autosomal dominant inheritance?

Autosomal dominant inheritance is when one mutated copy of the gene that causes a disorder in each cell is needed for a person to be affected. Autosomal dominant conditions may occur for the first time in a person in a family due to a spontaneous gene mutation, or these conditions may be inherited from an affected parent. When a person with an autosomal dominant disorder has a child, there is a 50% chance that their child will inherit the condition.[5]
Last updated: 12/3/2009

What is the long term prognosis (outlook) of people with Brody disease?

Symptoms of Brody disease may remain the same or slowly worsen with time. In advanced disease some people may experience some muscle loss (atrophy) and weakness.[2]
Last updated: 3/20/2009

References
Other Names for this Disease
  • Brody disease
  • Sarcoplasmic reticulum -Ca2+ATPase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.