What are Myopathies?
The word myopathy means "disease of muscle." More specifically, myopathies are diseases that cause problems with the tone and contraction of skeletal muscles (muscles that control voluntary movements.)
These problems range from stiffness (called myotonia) to weakness, with different degrees of severity. Some myopathies, especially when they're present from birth, have life-threatening complications. But, with time and physical therapy, some people born with myopathies can gain muscle strength. Others often can manage their symptoms through medication, lifestyle modifications, or use of orthopedic and respiratory equipment.
This fact sheet focuses on six inheritable myopathies (myopathies that can be passed from parent to child). • myotonia congenita (Thomsen's disease and Becker type) • paramyotonia congenita (Eulenberg's disease) • periodic paralysis (hyperkalaemic, hypokalaemic, normokalemic) • central core disease • nemaline myopathy (rod body disease) • myotubular myopathy (centronuclear myopathy)
CLICK HERE to find out more