Adult-onset autosomal recessive sideroblastic anemia (ARSA) is a rare inherited disorder characterized by a deficiency of red blood cells (anemia) and the presence of abnormal iron-containing granules (sideroblasts) in the bone marrow. It is cause...

Adult-onset cervical dystonia, DYT23 type is a rare form of dystonia, a neurological movement disorder, that typically begins in adulthood. It is characterized by involuntary muscle contractions in the neck and shoulder area that cause the head to...

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (CPEO-MM) is a rare genetic disorder that affects the muscles of the eyes and other parts of the body. It is caused by mutations in the mitochondrial DNA, which i...

Adult-onset citrullinemia type I (CTLN1) is a rare inherited metabolic disorder caused by a deficiency of the enzyme argininosuccinate synthetase (ASS). This enzyme is responsible for the conversion of citrulline to arginine, an essential amino ac...

Adult-onset distal myopathy due to VCP mutation is a rare, inherited disorder that affects the muscles of the arms and legs. It is caused by a mutation in the valosin-containing protein (VCP) gene. Symptoms typically begin in adulthood and include...

Adult-onset dystonia-parkinsonism is a rare neurological disorder characterized by a combination of dystonia (involuntary muscle contractions) and parkinsonism (slowness of movement, tremor, and stiffness). It typically begins in adulthood and pro...

Adult-onset foveomacular vitelliform dystrophy (AFVD) is a rare, inherited eye disorder that affects the macula, the part of the retina responsible for central vision. It is characterized by the presence of yellowish deposits in the macula, which ...

Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies (AIA) is a rare, acquired immunodeficiency disorder characterized by the presence of autoantibodies directed against interferon-gamma (IFN-γ). These autoantibodies interfere w...

Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is a rare genetic disorder caused by mutations in the DGUOK gene. This gene is responsible for producing an enzyme called deoxyguanosine kinase, which is involved in ...

Adult-onset myasthenia gravis is a chronic autoimmune neuromuscular disorder that is characterized by varying degrees of weakness of the skeletal (voluntary) muscles of the body. The hallmark of myasthenia gravis is muscle weakness that increases ...

Adult-onset nemaline myopathy is a rare, progressive muscle disorder that affects adults. It is characterized by muscle weakness and wasting, as well as the presence of small, rod-shaped structures called nemaline bodies in muscle tissue. Symptoms...

Adult-onset Steinert myotonic dystrophy (also known as Steinert disease) is a type of muscular dystrophy that affects adults. It is a progressive disorder that causes muscle weakness and wasting, as well as other symptoms such as myotonia (involun...

AEC Syndrome (Aplasia, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome) is a rare genetic disorder that affects the development of the skin, hair, nails, teeth, and sweat glands. It is caused by a mutation in the TP63 gene. Symptoms may includ...

Numerous aesthetic genital plastic surgery methods exist that could improve look and ease discomfort. Labiaplasty, clitoral hood reduction, labia majoraplasty, monsplasty, and vaginoplasty are some of these operations. Other names for thes...

AFib amyloidosis is a rare condition in which abnormal proteins called amyloid deposits build up in the heart and other organs. This buildup can cause the heart to beat irregularly (atrial fibrillation) and can lead to heart failure. It is most co...

African Iron Overload is a condition caused by a genetic mutation that leads to an excessive accumulation of iron in the body. It is most commonly found in people of African descent, particularly those of West African origin. Symptoms of African I...

African tick typhus is a bacterial infection caused by Rickettsia africae, a type of bacteria found in certain types of ticks. It is spread through the bite of an infected tick, and symptoms can include fever, headache, rash, and muscle aches. Tre...