Congenital Myopathy Information Page
... Congenital myopathy is a term for any muscle disorder present at birth. By this definition the congenital myopathies could include hundreds of distinct neuromuscular syndromes and disorders. In genera...

Familial Periodic Paralyses Information Page
... Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in...

Hypotonia Information Page
... Hypotonia, or severely reduced muscle tone (the amount of tension or resistance to movement in a muscle), is seen primarily in children. It is not the same as muscle weakness but it can co-exist with ...

Multifocal Motor Neuropathy Information Page
... Multifocal motor neuropathy is a progressive muscle disorder characterized by muscle weakness in the hands, with differences from one side of the body to the other in the specific muscles involved. It...

Myopathy Information Page
... The myopathies are neuromuscular disorders in whichthe primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, a...

Myotonia Congenita Information Page
... Myotonia congenita is a genetic, neuromuscular disorder characterized by the slow relaxation of the muscles. Symptoms may include muscle stiffness and hypertrophy (enlargement). The disorder is caused...

Myotonia Information Page
... Myotonia is a neuromuscular disorder characterized by the slow relaxation of the muscles after voluntary contraction or electrical stimulation. Generally, repeated effort is needed to relax the muscle...

Genes and Disease: Muscle and Bone
... The skeleton provides an anchor point against which muscles, attached via tendons, can exert force. There are a number of diseases that are caused by defects in genes important for the formation and f...