Children with muscular myopathies have varying degrees of muscle involvement. A child’s physician determines the necessary therapies according to medical needs. Some children may not require any special equipment or interventions and some may require full respiratory support from a ventilator.
Myopathies have the potential to significantly impact the general strength of a child’s body and the family may have frequent contact and interactions with medical professionals. If medical equipment is requested, PHS provides it, along with the necessary training and ongoing support.
Myopathies are diseases of the skeletal muscles that are not caused by nerve disorders. Skeletal or voluntary muscles become weak or shrunken. There are many different types of myopathies: genetic, inflammatory, endocrine, metabolic and idiopathic (unknown cause). Although these myopathies vary greatly, they all affect the skeletal muscles.
Muscular dystrophies are a separate group of diseases, but because they involve muscle wasting, they can be described as myopathies. Muscular dystrophy is a genetic disorder resulting from a defect in the production of specific proteins.
Genes are responsible for many functions in the body, among them oversight of protein production. Proteins are important in maintaining healthy cells in the body. The muscle cells produce thousands of proteins, and with genetic or inherited myopathies, there is a lack of, or defect in, one protein needed for normal muscle cell function.
The body’s endocrine cells produce chemical messengers called hormones. These hormones have many important functions in regulation of the body. One is to help with the regulation of the muscle cells. When these hormones are not regulating the muscle cells, muscle cell weakness may occur.
Inflammation is the body’s protective response to injured tissues, which can lead to inflammatory myopathies. Normally, the response to the injury is redness, warmth, swelling and pain.
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