Is metabolic myopathy hereditary?
This is because of the ways in which genetic diseases are inherited. Most of the metabolic diseases of muscle are inherited in an autosomal recessive pattern, meaning that a person needs two defective genes in order to have the disease.
What is a congenital myopathy?
Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be “floppy,” have difficulty breathing or feeding, and will lag behind other babies in meeting normal developmental milestones such as turning over or sitting up.
What are inflammatory myopathies?
What are the inflammatory myopathies? The inflammatory myopathies aare a group of diseases that involve chronic (long-standing) muscle inflammation, muscle weakness, and, in some cases, muscle pain. Myopathy is a general medical term used to describe a number of conditions affecting the muscles.
What is the pathophysiology of myopathy?
Myopathy refers to a clinical disorder of the skeletal muscles. Abnormalities of muscle cell structure and metabolism lead to various patterns of weakness and dysfunction. In some cases, the pathology extends to involve cardiac muscle fibers, resulting in a hypertrophic or dilated cardiomyopathy.
Do you need a muscle biopsy for endocrine myopathy?
Several categories of myopathies do not typically require muscle biopsy for a diagnosis. This section discusses circumstances in which a muscle biopsy is not always required for diagnosis of a myopathy. Other exceptions to the requirement for muscle biopsy include endocrine myopathies.
What are the different types of mitochondrial myopathies?
Note that the mitochondrial myopathies, defined as genetic disorders that encompass abnormalities of the respiratory chain, are usually considered separately and are not discussed in this article. Muscle cells transport glucose from the circulating blood, synthesize glycogen, and then degrade it when energy demands increase.
Why are metabolic myopathies important to the medical field?
Metabolic myopathies are important disorders since they mimic other more commonly encountered neurologic diseases. The diagnosis depends on a high index of suspicion and involves correlating certain clinical manifestations to specific metabolic defects.
How are metabolic myopathies different from muscular dystrophies?
The exact incidence and prevalence of metabolic myopathies is uncertain. They are relatively rare and are much less common than most of the muscular dystrophies. However, increased awareness and improved diagnostic capabilities have resulted in an increased number of metabolic myopathies diagnosed.