Fabry Disease is a rare hereditary disease that is characterized by heart, kidney and central nervous system problems as well as pain in the hands and feet (acroparesthesia), skin rashes (angiokeratoma), heat intolerance, fatigue, and frequent stomach upset including cramping, diarrhea, and nausea.
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One of several types of angioedema, hereditary angioedema (HAE) is a rare genetic disease characterized by sudden recurrent attacks of edema (swelling) usually involving the hands, arms, feet, legs, thighs, face, or genitals, severe abdominal pain, vomiting, and potentially life-threatening swelling of the larynx. HAE accounts for approximately 2% of all cases of angioedema and attacks are not associated with hives or itching.
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Metachromatic leukodystrophy (MLD) is an inherited disorder that causes fatty substances (lipids) to accumulate in key cells throughout the body. MLD affects the nerves running through the hands, feet, and other parts of the body (known as the peripheral nervous system, or PNS) and also affects the brain and spinal cord (known as the central nervous system, or CNS). The devastating mental deterioration characteristic of MLD occurs at several different age ranges depending on the type. Some cases progress rapidly to a life-threatening stage within a few years of diagnosis (infantile) while others may progress slowly over a period of 10 or more years (adult).
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Sanfilippo syndrome, also known as mucopolysaccharidosis III (MPS III), is a rare genetic disease that affects many
body systems and may lead to behavioral problems, deterioration in mental development, and damage to different body organs. It is
caused by a defect in an enzyme (sulfamidase) that normally breaks down substances in the body called glycosaminoglycans (GAG).
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