Different Types of Myopathies

Did you know that the word “myopathy” is made up of the Greek word “myo” meaning muscle and “pathos” meaning disease? Together, the word myopathy translates to muscle disease and this term is used to describe neuromuscular disorders that primarily cause muscle weakness due to dysfunctional muscle fibers responsible for voluntary motions. Along with muscle weakness, myopathies can also cause muscle cramps, stiffness, spasms, and pain or soreness. There are a variety of myopathies, however they can be broken down into two groups: hereditary and acquired myopathies.
Hereditary Myopathies



Like their name suggests, hereditary myopathies are inherited from an immediate family member. Hereditary myopathies that occur on the X chromosome tend to affect more men than women, while hereditary myopathies that occur on non-sex chromosomes affect men and women equally.

MUSCULAR DYSTROPHIES


Muscular dystrophies are characterized by a lack of protein called dystrophin. Since this protein is essential for normal muscle function, its absence causes muscle damage and weakness that causes problems with walking, swallowing, and muscle coordination.

CONGENITAL MYOPATHY

Congenital myopathies are present at birth, however they may not be diagnosed until later in infancy or early childhood. They are caused by genetic abnormalities in the genes responsible for proper muscle development.

METABOLIC MYOPATHY

Metabolic myopathies are characterized by an inability to properly convert food into energy. Specifically, individuals with metabolic myopathy lack a particular enzyme entirely or are deficient in an enzyme that is required for metabolism. Therefore, the end result is that the muscles are unable to function properly because they are not able to metabolize the required amount of energy.

MITOCHONDRIAL MYOPATHY

Mitochondrial myopathies are characterized by a variety of symptoms all over the body due to the fact that mitochondria exists in cells all over the body. These myopathies are caused by a genetic mutation that affects the cell’s blueprint for making the proteins associated with chemical energy for biochemical reactions. Since muscles require a large amount of energy to function properly, reduced energy will reduce their functionality.

CHANNELOPATHIES

Channelopathies are caused by genetic mutations that impair the function of ion channel units, as well as the proteins responsible for regulating these channels.

MYOTONIA CONGENITA

Myotonia congenita is a type of channelopathy characterized by delayed muscle relaxation and stiffness. In some cases, the disease can even cause muscle enlargement and increased muscle strength. Myotonias are caused by a genetic defect in the genes associated with chloride channels. Chloride channels are used by the body to shut down the electrical activity responsible for muscle contraction. However in people with myotonias, the gene responsible for stopping the electrical activity is damaged, allowing muscle contraction to continue.

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