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Diseases involving ion pumps can produce symptoms similar to channelopathies, as they both involve the movement of ions across membranes. Brody disease (also known as Brody myopathy) includes symptoms similar to myotonia congenita , including muscle stiffness and cramping after initiating exercise (delayed muscle relaxation).
For example, one study used the following histological criteria: "Glomeruli with mesangial hypercellularity (four or more cells/mesangium with or without mesangial matrix expansion and immune complex deposits)". [1] The histologic pattern of injury can also provide insight into the prognosis of the glomerular disorder.
All of these diseases have neurological symptoms. Prior to the understanding of the genetic mechanism for anticipation, it was debated whether anticipation was a true biological phenomenon or whether the earlier age of diagnosis was related to heightened awareness of disease symptoms within a family.
Doss porphyria/ALA dehydratase deficiency/Plumboporphyria (the disease is known by multiple names) DPT Diphtheria, pertussis, tetanus: DRSP disease Drug-resistant Streptococcus pneumoniae disease DS Down syndrome: DSPS Delayed sleep phase syndrome: DTs Delirium tremens: DVD Developmental verbal dyspraxia: DVT Deep vein thrombosis
This article provides a list of autoimmune diseases. These conditions, where the body's immune system mistakenly attacks its own cells, affect a range of organs and systems within the body. Each disorder is listed with the primary organ or body part that it affects and the associated autoantibodies that are typically found in people diagnosed ...
Schilder disease or diffuse myelinoclastic sclerosis: is a rare disease that presents clinically as a pseudotumoural demyelinating lesion; and is more common in children. [56] [57] Solitary sclerosis: This variant was proposed (2012) by Mayo Clinic researchers. [58] though it was also reported by other groups more or less at the same time.
The Mayo Clinic announced a $5 billion expansion plan for its flagship campus Tuesday that includes new buildings designed so they can evolve and expand as patient needs change over the coming ...
Like A–T, FA is a recessive disease, appearing in families without a history of the disorder. FA is caused by mutation in the frataxin gene, most often an expansion of a naturally occurring repetition of the three nucleotide bases GAA from the usual 5–33 repetitions of this trinucleotide sequence to greater than 65 repeats on each chromosome.