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 ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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 ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
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 ...
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 ...
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 ...
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 ...
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 ...
Charcot-Marie-Tooth hereditary neuropathy is a group of genetic disorders that damage the peripheral nerves, especially those that control muscles and carry ...
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 ...
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 ...
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 ...
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 ...
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 ...
Intercalary polydactyly (also called central polydactyly or mesoaxial polydactyly) means a baby is born with an extra finger or toe that appears between the ...
Insertional polydactyly is a birth difference where a person has an extra finger or toe that sits “in the middle” of the hand or foot, instead of being next to ...
Central polydactyly of the hand is a rare condition present at birth where a person has a partial or complete extra finger in the middle part of the hand ...
Congenital myopathy 1A is a genetic muscle condition that usually starts at birth or early childhood. “Congenital” means present from birth, and “myopathy” ...
Central core disease is a rare inherited muscle condition that is usually present from birth. It mainly causes ongoing (often non-worsening) weakness in ...
Central core myopathy is a genetic muscle condition that usually starts at birth or in early childhood. It mainly causes weak muscles, especially in the hips, ...
