Radio-ulnar terminal transverse meromelia is a birth problem where the baby is born without the forearm bones (radius and ulna) and without the hand on that side. In this condition, the arm stops ...
Congenital absence of both forearm and hand is a rare birth condition. In this condition, the baby is born with the upper arm present, but the forearm, wrist, and hand on one side or both sides do ...
Cone dystrophy is a rare eye disease where the cone cells in the retina slowly stop working properly. Cone cells are the light-sensing cells that help you see straight ahead, see fine details, and ...
Collagen VI-related muscular dystrophy is a group of rare genetic muscle diseases where the body makes collagen type VI in an abnormal way. Collagen VI is a support protein that sits around muscle ...
Collagen VI-related muscle disorder is a group of rare genetic diseases that weaken the muscles of the body and also affect the soft connective tissue around the muscles, joints, and skin. In this ...
Collagen VI-related dystrophy is a group of rare genetic diseases that damage the muscles and the supporting tissues around them. In this condition, the body has changes (variants) in special genes ...
Collagen 6-related myopathy (often written as collagen VI-related myopathy) is a rare inherited muscle disease. It happens when there is a change (mutation) in the genes that make a protein called ...
Classic multiminicore myopathy is a rare inherited muscle disease that starts very early in life and stays for the whole lifetime. It belongs to a group of conditions called congenital myopathies, ...
Myoseptumitis is a medical word that means inflammation of the myoseptum, which is the thin wall of tissue inside a muscle that separates small bundles of muscle fibers. In simple words, the ...
Myoseptum inflammation is a thin sheet of strong connective tissue that lies between blocks of muscle fibers. It acts like a wall or partition inside the muscle and helps pass force from one part of ...
Paroxysmal exercise-induced dystonia (PED) is a rare brain movement problem. It causes short attacks of abnormal movements when a person does long or strong exercise, like fast walking or running. ...
Charcot-Marie-Tooth disease axonal type 2C (CMT2C) is a rare inherited nerve disease. It mainly damages the long nerves that control movement and feeling in your arms and legs. Doctors call this an ...
Peroneal muscular atrophy is an older name for Charcot–Marie–Tooth disease (CMT). It is a group of inherited (genetic) nerve diseases that slowly damage the peripheral nerves in the legs, feet, ...
Charcot-Marie-Tooth neuropathy is a group of inherited nerve diseases that slowly damage the long nerves in the arms and legs. These nerves are called “peripheral nerves.” They carry messages from ...
Charcot-Marie-Tooth hereditary neuropathy is a group of genetic disorders that damage the peripheral nerves, especially those that control muscles and carry feeling in the feet, legs, hands, and ...
Charcot-Marie-Tooth muscular atrophy (usually called Charcot-Marie-Tooth disease, or CMT) is a group of genetic nerve diseases that slowly damage the long nerves in the legs, feet, hands, and arms. ...
Ulnar dimelia is a very rare birth problem of the arm and hand. In this condition the radius bone on the thumb side is missing, and the ulna bone on the little-finger side is doubled. Because of ...
Mirror hand, also called ulnar dimelia, is an extremely rare birth difference where the bones on the “little-finger side” of the forearm (the ulna and the related carpal bones) are duplicated and the ...
Mesoaxial polydactyly of the fingers means there is an extra finger in the middle part of the hand, usually next to the index, middle, or ring finger. Doctors call it “central polydactyly” because ...
Mesoaxial polydactyly (also called central polydactyly) means that a person is born with an extra finger or toe in the middle part of the hand or foot, not on the thumb side and not on the ...
