How Do You Spell CENTRAL CORE MYOPATHY?

Pronunciation: [sˈɛntɹə͡l kˈɔː ma͡ɪˈɒpəθɪ] (IPA)

Central Core Myopathy is a rare genetic disorder that affects the muscles. The word "central" is pronounced as /ˈsɛntrəl/ with the stress on the first syllable. The word "core" is pronounced as /kɔːr/ with a long "o" sound and no stress. The word "myopathy" is pronounced as /maɪˈɒpəθi/ with the stress on the second syllable. The condition causes weakness in the skeletal muscles, particularly in the legs, which can lead to mobility issues. Symptoms may also include breathing and heart problems.

CENTRAL CORE MYOPATHY Meaning and Definition

1. Central core myopathy is a rare genetic disorder characterized by muscle weakness and atrophy. It is considered a type of congenital myopathy, meaning it is present from birth. This condition primarily affects the muscles involved in movement, including those in the arms, legs, and trunk.

   The term "central core" refers to a distinctive finding observed during muscle biopsy, which is often a necessary diagnostic procedure for this condition. The biopsy reveals small, abnormal areas known as "cores" within the muscle fibers. These cores have a characteristic appearance under the microscope, showing a lack of oxidative enzymes. The exact cause of central core myopathy is still not fully understood, but it is believed to result from a mutation in the gene responsible for the production of skeletal muscle proteins.

   Signs and symptoms of central core myopathy can vary widely. Generally, affected individuals experience muscle weakness, decreased muscle tone, and impaired motor development. This can lead to difficulties with walking, running, and other motor activities. Some individuals may also exhibit joint stiffness and contractures due to muscle weakness. In severe cases, respiratory and swallowing difficulties may be present.

   Treatment for central core myopathy focuses on managing the symptoms and maximizing quality of life. This may involve physical therapy to strengthen muscles and improve mobility, as well as assistive devices and modifications to aid in daily activities. Regular monitoring by a healthcare team specialized in neuromuscular disorders is essential to address individual needs and provide comprehensive care for those with central core myopathy.

Common Misspellings for CENTRAL CORE MYOPATHY

• xentral core myopathy
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