Mindblown: a blog about philosophy.

Amyoplasia congenital disruptive sequence (ACDS) is a congenital neuromuscular disease. Patients with ACDS are born with markedly diminished muscle mass and multiple joint contractures that are generally symmetrical. These malformations usually affect all four extremities, but they may involve only the arms or only the legs.  

Alternating hemiplegia of childhood (AHC) is a rare but serious neurological disorder. The hallmark of AHC is the onset of frequent, recurrent, transient episodes of hemiplegia (paralysis of a body part). Hemiplegia manifestations run the gamut from numbness to complete loss of movement and feeling. Hemiplegia may affect either side of the body and may…

Alstrom syndrome is an autosomal recessive genetic disorder characterized primarily by retinitis pigmentosa beginning during infancy and progressive sensorineural hearing loss beginning in early childhood. There is typically infant or childhood obesity that may normalize somewhat later, and individuals with this disorder frequently develop diabetes mellitus by early adulthood. In contrast to Bardet- Biedl syndrome,…

Alpha-1-antitrypsin deficiency (A-1-AD) is caused by an inadequate amount of the enzyme alpha- 1-antitrypsin in the blood. Affected individuals have 10-20% of normal levels of this serum protein. As a result, they experience early-onset emphysema (blebs and cysts replacing normal lung tis¬ sue), usually in the third or fourth decade. A-l-AD can also cause liver…

Alpers disease, also known as progressive infantile poliodystrophy, is a neurological condition occurring in infants and children. The degeneration of cerebral gray matter results in motor disturbances, seizures, and dementia. It is also common for patients with Alpers disease to develop liver damage. Although a familial form has been identified, the etiology is still unknown…

Allergies are inflammatory conditions resulting from an allergen (or antigen) producing an adverse immune reaction involving the antibody immunoglobulin E (IgE). Hypersensitivity disorders mediated by IgE include: atopic diseases (i.e., allergic rhinitis, allergic conjunctivitis, atopic dermatitis, and allergic asthma), some cases of urticaria, some cases of digestive allergy, and systemic anaphylaxis. The response to the…

Alexander disease is a rare, genetic, degenerative disorder of the nervous system. It is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath on nerve fibers in the brain. The myelin sheath is the fatty covering that acts as an insulator. A rare neurodegenerative disorder characterized by…

Hypoparathyroidism is a disorder of the parathyroid glands, which are located in the front of the neck along the periphery of the thyroid gland. Parathyroid glands synthesize and secrete parathyroid hormone (PTH), which is a principal regulator of calcium metabolism. Hypoparathyroidism has a variety of causes, but constant findings in this disease are inadequate levels…

Albers-schonberg disease is one form of osteopetrosis, which is a hereditary disorder affecting bone density and formation. In persons with osteopetrosis, decreased skeletal resorption leads to improper bone formation inside the bone marrow space, which leads to increased bone density. Osteopetrosis can have onset in infancy, childhood, or adulthood, with childhood and infant onset leading…

The National Organization for Rare Disorders (2000) describes AIDS dysmorphic syndrome (ADS) as a rare disorder of infancy that can result from a mother’s infection with the human immunodeficiency virus (HIV) during pregnancy. HIV is the retrovirus that causes acquired immune deficiency syndrome (AIDS). This syndrome has many synonyms, such as dysmorphic AIDS, fetal AIDS…