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Androgen Insensitivity Syndrome

Androgen Insensitivity Syndrome What Is Androgen Insensitivity Syndrome? Androgen insensitivity syndrome (AIS) is a rare condition that affects sexual development. It occurs when someone is genetically male, but their body doesn’t respond to male sex hormones called androgens. This results in a person having male sex chromosomes (one X and one Y chromosome) but not having male genitals. AIS affects males during fetal development and during puberty. AIS was previously called testicular feminization syndrome. AIS happens due to genetic mutations, which are changes to genes that affect how they function. With AIS, the gene mutation prevents male genitals from developing in people who are genetically male. AIS almost always results in infertility. Receiving an AIS diagnosis for yourself or your child can be difficult. The condition isn’t life-threatening, but people with AIS may struggle with gender identity or have concerns about their body image. It’s helpful to have a supportive network...
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Acute Promyelocytic Leukemia

Acute Promyelocytic Leukemia Overview What is acute promyelocytic leukemia (APL)? Acute promyelocytic leukemia (APL) is a rare blood cancer. It’s a form of acute myeloid leukemia that happens when a genetic mutation (change) creates abnormal white blood cells that multiply uncontrollably in your bone marrow. Healthcare providers may call this condition APL leukemia or M3-leukemia. APL is a serious condition with life-threatening symptoms, including excessive bleeding, which come on suddenly and quickly get worse. Thanks to treatment that’s an innovative combination of chemotherapy and non-chemotherapy drugs, healthcare providers can treat and often cure acute promyelocytic leukemia. Symptoms What are the symptoms of acute promyelocytic leukemia? Acute promyelocytic leukemia (APL) symptoms develop when your bone marrow can’t make normal numbers of red blood cells, white blood cells and platelets. If you have low blood cell levels (pancytopenia), you may develop serious symptoms, includi...
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Claustrophobia

Claustrophobia  Overview What is claustrophobia? Claustrophobia is an intense fear of confined or enclosed spaces. Many fears seems reasonable. We all try to avoid things that make us feel uncomfortable. The difference between a fear and a phobia is that a phobia is an intense and irrational fear toward one or more things or situations. Also, with phobias, the level of your fear doesn’t match the actual danger presented by the feared object or situation. Phobias become a health issue when the fear interferes with your ability to carry out daily activities. Phobias can limit your ability to work efficiently, put a strain on your relationships and reduce your self-esteem. What situations can trigger claustrophobia? Common triggers include: Tunnels. Elevators. Trains. Airplanes. Small cars. Caves. MRI imaging machine. Cellars. Small rooms without windows or with windows that can’t be opened. Thoughts about being in a confined space. What does claustrophobia feel like? If you have clau...
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Primary localized cutaneous amyloidosis (PLCA)

Primary localized cutaneous amyloidosis (PLCA) Overview Primary localized cutaneous amyloidosis (PLCA) is a chronic skin condition where abnormal protein clumps (amyloids) build up in the upper layers of the skin without affecting internal organs. It typically causes itchy spots, rough bumps, or dark patches on the arms, legs, or back Types of PLCA Lichen amyloidosis: Very itchy, thickened, brownish bumps, usually found on the shins. Macular amyloidosis: Flat, grayish-brown or dark spots, often with a rippled pattern on the upper back. Biphasic amyloidosis: A mix of both lichen and macular skin changes.Nodular amyloidosis: Rare, firm pink or brown lumps that form deeper in the skin. Symptoms Lichen Amyloidosis (Lichenoid) Small, firm, raised bumps (papules) that are red to dark brown Bumps join together into thick, rough, scaly plaques with a bumpy surface Common on the shins, lower legs, and outer arms Severe, intense itching that often triggers more scratching and thickening Macula...
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Action myoclonus-renal failure syndrome

Action myoclonus-renal failure syndrome Overview Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. Symptoms Neurological Symptoms Action Myoclonus: S udden, brief, involuntary muscle jerks in the face, torso, and limbs that worsen when attempting voluntary movement. Tremors: Fine or rhythmic shaking in the hands, fingers, and sometimes the head or tongue. Seizures: Generalized tonic-clonic or myoclonic seizures.Ataxia: Loss of balance and unco...
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GM3 Synthase Deficiency

GM3 Synthase Deficiency Overview GM3 synthase deficiency is a rare genetic condition that can affect several different body systems. Many individuals with this condition have symptoms of severe infantile irritability with feeding difficulties, vomiting, seizures, low muscle tone, poor vision, hearing impairment, a small head, growth failure and frequent infections. Some people with this condition may have additional symptoms, such as uncontrolled and abnormal movements, abnormal lateral curvature of the spine (scoliosis) and gastrointestinal issues. Many individuals have severe-to-profound developmental delays and intellectual disability, with few individuals meeting early developmental milestones. The condition is rare, with more than 100 patients reported in medical literature. Many of these individuals come from Old Order Amish or La Réunion Island ancestry, but the condition has been reported in other populations as well. GM3 synthase deficiency is an autosomal recessive condition ...
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Amish lethal microcephaly

Amish lethal microcephaly Overview Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year. Amish lethal microcephaly is a rare, severe inherited metabolic and developmental disorder found almost exclusively in the Old Order Amish community in Pennsylvania, where it affects roughly 1 in 500 newborns. It causes extreme smallness of the head and an underdeveloped brain, leading to death usually within the first six months of life. Symptoms Physical and Neurological Symptoms Extreme microcephaly: Head size is significantly below normal for age and gender due to an underdeveloped brain. Distinct facial features: A sloping forehead and micrognathia (an unusually small lower jaw and chin). Seizures: Generalized tonic-clonic or bilateral seizures often develop. Severe irritability : Infants frequently display extreme irritability starting around the second or third month of life. Temperature instability: Difficulty contr...
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