Kennedy’s disease, also known as X-linked spinal and bulbar muscular atrophy, is a rare genetic neuromuscular disorder that primarily affects adult males. It is characterized by progressive muscle weakness and wasting, especially in the limbs and bulbar muscles, which control…
Charcot-Marie-Tooth disease (CMT) is caused primarily by genetic mutations that affect the peripheral nerves, which are the nerves outside the brain and spinal cord responsible for movement and sensation in the limbs. These mutations disrupt the normal function and structure…
Spinocerebellar ataxia (SCA) is a group of inherited disorders characterized primarily by progressive problems with coordination and balance due to degeneration of the cerebellum and sometimes other parts of the nervous system. The signs of spinocerebellar ataxia can vary depending…
Friedreich’s ataxia is caused by a genetic mutation that affects the production of a critical protein called frataxin, which is essential for the proper functioning of mitochondria—the energy-producing structures inside cells. The root cause lies in a specific gene known…
Ataxia-telangiectasia (A-T) is a rare, inherited disorder that affects multiple systems in the body, leading to a wide range of complications. These complications arise because A-T impacts the nervous system, immune system, and other organs, causing progressive disability and increased…
Von Hippel-Lindau disease (VHL) is caused by mutations in a specific gene known as the Von Hippel–Lindau tumor suppressor gene, located on the short arm of chromosome 3. This gene normally produces a protein that helps regulate cell growth and…
Neurofibromatosis type 2 (NF2) is a genetic disorder characterized primarily by the growth of benign tumors on the nerves responsible for hearing and balance, especially the vestibular nerves. The signs of NF2 often begin to appear in adolescence or early…
Neurofibromatosis type 1 (NF1) is caused by mutations in a specific gene called the NF1 gene, which is located on chromosome 17. This gene is responsible for producing a protein named neurofibromin. Neurofibromin plays a crucial role in regulating cell…
Tuberous sclerosis complex (TSC) is a genetic disorder that causes non-cancerous tumors, called hamartomas, to grow in various organs throughout the body. These growths can lead to a wide range of complications depending on their size, location, and the organs…
Sturge-Weber syndrome (SWS) is a rare neurological and vascular disorder caused primarily by a specific genetic mutation that occurs after conception, meaning it is not inherited but arises spontaneously in the affected individual. The root cause is a **somatic mosaic…