Rare DiseasesCentral Core Myopathy: Causes, Symptoms, Diagnosis, Treatment, and Management

Central Core Myopathy: Causes, Symptoms, Diagnosis, Treatment, and Management

Central Core myopathy (CCM) is a rare inherited muscle disease that causes muscle weakness and other muscle problems due to a problem in the structure and function of the muscles. The term “Central Core” refers to a characteristic structural abnormality observed in muscle cells affected by the disease. Central Core Myopathy is usually inherited in an autosomal dominant manner. Diagnosis involves a careful evaluation of symptoms and family history. Additionally, genetic tests, especially for detecting mutations in the RYR1 gene, can be helpful. Treatment may focus on alleviating symptoms and improving quality of life. Physical therapy, exercise programs, and other rehabilitation methods can be beneficial for individuals with CCM. Care and monitoring of patients are important in managing symptoms and tracking the progression of the disease.

What are the Causes of Central Core Myopathy?

Central Core myopathy primarily manifests as an inherited disorder. The main cause of CCM is specific genetic mutations in muscle cells. These mutations affect the structure and function of muscle cells, leading to muscle weakness and other muscle problems. The most common genetic mutations leading to CCM are found in genes that encode muscle proteins such as RYR1 and SEPN1. These mutations impede the normal functioning of muscle cells and affect the mechanisms regulating muscle contraction. It has been reported that CCM can also occur rarely due to de novo mutations. In this case, the disease occurs in an individual without a familial history as a result of a new mutation.

What are the Symptoms of Central Core Myopathy?

The symptoms of Central Core Myopathy can vary in severity and from person to person:

  • muscle weakness
  • involuntary muscle contractions
  • muscle pain
  • walking problems
  • joint problems
  • respiratory problems
  • scoliosis
  • speech and swallowing problems
  • heart problems

How is Central Core Myopathy Diagnosed?

Central Core Myopathy is typically diagnosed using a combination of clinical and laboratory tests:

Physical Examination: A doctor performs a physical examination to assess the patient’s symptoms and muscle weakness.

Electromyography: This test can help examine how the muscles are functioning and differentiate CCM from other muscle diseases.

Muscle Biopsy: CCM diagnosis is usually confirmed through muscle biopsy.

Genetic Tests: It is important to subject patients to genetic tests and detect mutations in genes that lead to CCM, such as RYR1 or SEPN1.

Blood Tests: In some cases, blood tests may be conducted to determine the levels of muscle enzymes.

How is Central Core Myopathy Treated?

The treatment of Central Core Myopathy aims to alleviate symptoms and improve quality of life:

Physical Therapy and Rehabilitation: Physical therapy is used to increase muscle strength, improve mobility, and enhance the ability to use muscles in individuals with CCM.

Speech and Language Therapy: Speech and language therapists can help improve communication skills.

Bone Health Monitoring: Appropriate treatment and care may be recommended to support bone health and prevent fractures.

Genetic Counseling: As CCM has a genetic origin, genetic counseling is important.

Symptom Management: Symptom management strategies can be implemented for specific symptoms.

Respiratory Support: In rare cases, respiratory support or respiratory therapy may be required when respiratory problems arise due to weakness in respiratory muscles.

How Should Central Core Myopathy be Managed?

The management of Central Core Myopathy should be personalized based on the individual’s symptoms, age, and overall health:

Regular Monitoring and Evaluation: Individuals with CCM should be regularly monitored and evaluated by a healthcare team.

Physical Therapy and Rehabilitation: Physical therapy is used to increase muscle strength, improve mobility, and enhance the ability to use muscles in individuals with CCM.

Genetic Counseling: Seeking help from genetic counselors can help families understand the inheritance pattern and risk of the disease.

Symptom Management: Managing the symptoms caused by CCM is important.

Speech and Language Therapy: Speech and language therapy may be recommended for individuals experiencing speech and language problems.

Respiratory Support: In rare cases, respiratory support or respiratory therapy may be required when respiratory problems arise due to weakness in respiratory muscles.

Bone Health Monitoring and Treatment: Monitoring bone health and implementing bone-preserving treatments, if necessary, is important.

Psychosocial Support: It is important for both patients and family members to receive psychosocial support.

Exclusive content

Latest article

More article