Pompe Disease

Differential Diagnosis: Glossary

An inherited disease that is caused by the degeneration of the spinal cord. Characterized by muscle wasting, poor muscle tone, and paralysis, it is often fatal by the age of two. Also known as Spinal Muscular Atrophy Type 1 (SMA-I).

A rare genetic disorder that may affect both sexes, it is characterized by severe cardiomyopathy (disease of the heart’s muscle mass), variable skeletal muscle weakness, and mental retardation.

An inherited form of muscular dystrophy appearing in males usually before age six. It is characterized by symmetrical muscle weakness and wasting and usually affects the muscles of the legs before those of the arms. There may be enlargement of muscles, heart problems, and sometimes mild mental retardation. Due to the progressive nature, death usually occurs before the age of 20.

A condition characterized by an unexplained thickening of the endocardium (the innermost lining of the heart) that may cause enlargement of the heart or heart failure. Death usually occurs before age two.

An inherited metabolic disorder caused by an enzyme deficiency that results in the accumulation of abnormal glycogen (a large complex carbohydrate molecule) in the liver and muscles.

An inherited metabolic disorder caused by an enzyme deficiency that results in the accumulation of glycogen (a large complex carbohydrate molecule) in muscle.

An inherited metabolic disorder caused by an enzyme deficiency that results in the accumulation of glycogen (a large complex carbohydrate molecule) in the liver and leukocytes (white blood cells).

A congenital heart disease of unknown cause that results in abnormal thickening of the wall of the left ventricle, which is the main pumping chamber of the heart.

An inherited form of muscular dystrophy, it appears in childhood or early adulthood, and affects both males and females. Characterized by muscle weakness and wasting, usually symmetrical, of the pelvic girdle muscles and shoulder girdle muscles.

A condition of severe end-stage liver dysfunction that is accompanied by a decline in mental status that may range from confusion (hepatic encephalopathy) to unresponsiveness (hepatic coma).

Disorder related to the mitochondria, the small organelle of the cell cytoplasm that is responsible for energy production and cellular respiration.

Inflammation of the muscular walls of the heart.

An inflammation of several voluntary muscles simultaneously.

A rare neuromuscular disorder characterized by early rigidity of the spine and difficulty breathing.

Chronic inflammatory disease characterized by pain, stiffness, inflammation, swelling, and occasionally destruction of the joints.

Often marked by asymmetrical muscle weakness, usually limited to the shoulder blade area (scapula) and the smaller of the bones below the knee (peroneal).

Brief stoppage of breathing during sleep, often characterized by daytime sleepiness.