Charcot-Marie-Tooth neuropathy type 2L (CMT2L) is a rare inherited nerve disease. It mainly damages the long nerves that carry signals to and from the legs ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Charcot-Marie-Tooth disease axonal type 2K (CMT2K) is a rare inherited nerve disease. It mainly damages the long nerves that carry signals between the spinal ...
Charcot-Marie-Tooth disease axonal type 2H (CMT2H) is a very rare inherited nerve disease. It mainly damages the long “wiring” parts of the nerves (axons) that ...
Charcot-Marie-Tooth neuropathy type 2F (CMT2F) is a rare inherited nerve disease. It mainly damages the long “wires” of the peripheral nerves, called axons. ...
Charcot-Marie-Tooth disease axonal type 2F (CMT2F) is a rare, inherited nerve disease. It mainly damages the long “wires” of the peripheral nerves, called ...
Hereditary motor and sensory neuropathy type IIc (HMSN2C) is a very rare inherited nerve disease that mainly damages the long nerves to the arms and legs and ...
Congenital insensitivity to pain–anosmia–neuropathic arthropathy is a very rare genetic nerve disease. In this condition, a person is born unable to feel ...
Late infantile neuronal ceroid lipofuscinosis (NCL) caused by a mutation in the CLN6 gene is a rare, inherited brain disease in children. It belongs to a group ...
Ceroid lipofuscinosis, neuronal, 6a (often called CLN6 disease or CLN6A) is a rare inherited brain disease. It belongs to a family of conditions called ...
Lipofuscinosis is a group of rare diseases where waste material called lipofuscin builds up inside cells, especially in brain and eye cells. Lipofuscin is a ...
Neuronal ceroid lipofuscinosis 4, Parry type (often shortened to CLN4 disease or Parry type NCL) is a very rare inherited brain disease. It belongs to a family ...
Intracranial arteriovenous malformation is a problem in the blood vessels inside the brain where an artery connects directly to a vein without a normal tiny ...
Cerebellar ataxia-ectodermal dysplasia syndrome is a very rare genetic condition that affects both the brain (especially the cerebellum) and ectodermal ...
Early plasmacytoid dendritic cell leukemia/lymphoma” is most often the same disease doctors now call blastic plasmacytoid dendritic cell neoplasm (BPDCN). It ...
Cayman type cerebellar ataxia (often shortened to “Cayman ataxia”) is a rare inherited brain development condition that starts from birth or very early ...
Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
Cerebral myiasis means fly larvae (maggots) infest tissue in or around the brain. It is extremely rare. In most reported cases, larvae get access through an ...
Spongy degeneration of the brain means the brain’s white matter (the wiring that carries messages) develops many tiny fluid-filled holes and becomes soft and ...
Spongiform leucodystrophy is a rare brain disease. It mainly affects babies and young children. “Leuco-” means white, and “dystrophy” means damage or poor ...
Canavan disease is a rare, inherited brain disorder in which the white matter (the “insulation” around nerve fibers called myelin) is damaged and does not ...
Aminoacylase-2 deficiency—the condition better known today as Canavan disease (aspartoacylase deficiency) is a rare, inherited brain disease. Doctors now call ...
