What is Myopathy?
thousands of proteins. With each of the inherited myopathies, a genetic defect is linked to a lack of, or problem with, one of the proteins needed for normal muscle cell function. There are many different types of myopathies, some of which are inherited, some inflammatory, and some caused by endocrine problems. Myopathies are rare and not usually fatal. Typically, effects are mild, largely causing muscle weakness and movement problems, and many are transitory. Only rarely will patients become dependent on a wheelchair. However, muscular dystrophy (which is technically a form of myopathy) is far more severe. Some types of this disease are fatal in early adulthood. Genetic myopathies include central core disease, centronuclear (myotubular) myopathy, myotonia congenita, nemaline myopathy, paramyotonia congenita, periodic paralysis and mitochondrial myopathies. These forms vary by symptoms, severity and genetic mutation. Both dominant and recessive modes of inheritance are also present. Ce
Published: The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps). Myopathies are grouped as follows: congenital myopathies: characterized by developmental delays in motor skills; skeletal and facial abnormalities are occasionally evident at birth muscular dystrophies: characterized by progressive weakness in voluntary muscles; sometimes evident at birth mitochondrial myopathies: caused by genetic abnormalities in mitochondria, cellular structures that control energy; include Kearns-Sayre syndrome, MELAS and MERRF glycogen storage diseases of muscle: caused by mutations in genes controlling enzymes that metabolize glycogen and glucose (blood sugar); include Pompe’s, Andersen’s and Cori’s diseases myoglobinurias: caused by disord
Myopathy is a muscular disorder that interferes with the proper function of the muscle fibers. Depending on the severity of the disease, a person suffering with myopathy may find that the muscles are so weak that performing routine tasks is extremely difficult if not impossible. There are a number of types of myopathy, including muscular dystrophy, classes of myotonia and mitochondrial myopathies. In terms of muscular dystrophy, the various manifestations of myopathy include a process in which the muscles weaken or degenerate over time. During the process of degeneration, the muscle groups impacted may experience some short periods of regeneration, allowing the individual to temporarily recapture some of the function of the muscles. However, the body’s ability to regenerate is eventually overcome by the disease, often making it impossible to walk. At this point, the degeneration will continue, and may eventually compromise the muscles of the respiratory system. Within the myotonia fami
The myopathies are a family of neurological diseases in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps). Myopathies are grouped as follows: • congenital myopathies: characterized by developmental delays in motor skills; skeletal and facial abnormalities are occasionally evident at birth • muscular dystrophies: characterized by progressive weakness in voluntary muscles; sometimes evident at birth • mitochondrial myopathies: caused by genetic abnormalities in mitochondria, cellular structures that control energy; include Kearns-Sayre syndrome, MELAS and MERRF • glycogen storage diseases of muscle: caused by mutations in genes controlling enzymes that metabolize glycogen and glucose (blood sugar); include Pompe’s, Andersen’s and Cori’s diseases myoglobinurias: caused by
