Category: Autoimmune and Rare Diseases A – Z

Kallmann syndrome is a rare genetic condition where the brain does not make enough gonadotropin-releasing hormone (GnRH). Because of this, the body makes very low levels of the sex hormones (testosterone in males, oestrogen and progesterone in females). Puberty is Read More …

Rabson–Mendenhall syndrome (RMS) is a very rare genetic disease in which the body’s cells do not respond properly to insulin. This problem is called severe insulin resistance. Insulin is a hormone made by the pancreas that helps sugar (glucose) move Read More …

HELLP syndrome means Hemolysis, Elevated Liver enzymes, and Low Platelets otherwise referred to as HELLP syndrome, has historically been classified as a complication or progression of severe preeclampsia. This progression, however, has been challenged with recent publications that suggest these Read More …

Bernard-Soulier syndrome is a rare inherited blood clotting disorder that is characterized by unusually giant platelet cells, thrombocytopenia, and prolonged bleeding time. Affected individuals tend to bleed excessively and incur spontaneous ecchymoses. This activity reviews the evaluation and treatment of Read More …

Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder that classically includes the characteristic triad of immunodeficiency, thrombocytopenia, and eczema. It results from a genetic mutation in the gene encoding the Wiskott-Aldrich syndrome protein (WASp). The disease has variable presentation ranging Read More …

Evans syndrome is an autoimmune condition that presents with two or more cytopenias, which commonly include autoimmune hemolytic anemia (AIHA) and immune thrombocytopenia (ITP), with or without immune neutropenia. This activity reviews the presentation, evaluation, and management of Evans syndrome Read More …

Hyperesthesia is a condition that involves an abnormal increase in sensitivity to stimuli of the sense. Stimuli of the senses can include sound that one hears, foods that one tastes, textures that one feels, and so forth. Increased touch sensitivity is referred to as Read More …

Transverse myelitis is a demyelinating and immune-mediated inflammatory disorder of the spinal cord, the part of the central nervous system that sends impulses from the brain to nerves in the body. This inflammation can cause damage to the ensheathing nerve Read More …

Resting tremor occurs when the muscle is relaxed, such as when the hands are resting on the lap.  With this disorder, a person’s hands, arms, or legs may shake even when they are at rest.  Often, the tremor only affects the Read More …

Cerebellar tremor is typically a slow, high-amplitude (easily visible) tremor of the extremities (e.g., arm, leg) that occurs at the end of a purposeful movement such as trying to press a button.  It is caused by damage to the cerebellum Read More …

Physiologic tremor/ Physiologic tremor occurs in all healthy individuals.  It is rarely visible to the eye and typically involves a fine shaking of both of the hands and also the fingers.  It is not considered a disease but is a Read More …