Rare Disease

Pompe disease

Understanding Pompe Disease: Symptoms, Diagnosis, and Treatment

Pompe disease, also known as glycogen storage disease type II, is a rare genetic disorder that affects approximately 1 in 40,000 people worldwide. It is caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), which is responsible for breaking down glycogen (a form of sugar) in the body. Without enough GAA, glycogen builds up …

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what is char syndrome?

What is Char syndrome?

Char syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by: Triad of patent ductus arteriosus (PDA) Typical facial features with depressed nasal bridge and broad flat nasal tip, widely spaced eyes, down slanted palpebral fissures. Aplasia or hypoplasia of the middle phalanges of the fifth fingers The incidence of Char syndrome is less …

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What is Calciphylaxis?

Calciphylaxis is an uncommon, rare, serious, and fatal disorder that is characterized by: Calcification of the small blood vessels located within the fatty tissue and deeper layers of the skin. Blood clots formation. Death of skin cells due to too little blood flow. Recent studies estimated that the incidence of calciphylaxis is around 3.5 new …

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What is Amyloidosis?

What is Amyloidosis? An amyloidosis is a group of serious and rare diseases in which abnormal proteins, known as amyloid fibrils, build up in tissues and organs. Building up of these proteins leads to improper functionality of the organs and hence the failure. It results from abnormalities in plasma cells. Amyloidosis could be either genetic …

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Sarcoidosis image

What is Sarcoidosis?

Sarcoidosis is a rare disease where inflamed cells clump together to make small lumps called granulomas which can develop in any part of the body. However, sarcoidosis is mainly found in the lungs (90%), and the lymph glands that drain the lungs. Additionally, it can affect other parts like the liver, nervous system, skin, eyes, …

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