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Hereditary neuropathy with liability to pressure palsy (HNPP) is a peripheral neuropathy, a condition that affects the nerves. [4] Pressure on the nerves can cause tingling sensations, numbness , pain, weakness, muscle atrophy and even paralysis of the affected area.
Hereditary nonpolyposis colorectal cancer (HNPCC) is a hereditary predisposition to colon cancer.. HNPCC includes (and was once synonymous with) [1] Lynch syndrome, an autosomal dominant genetic condition that is associated with a high risk of colon cancer, endometrial cancer (second most common), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. [2]
The symptoms of CANDLE syndrome can manifest themselves in a variety of different ways and combinations related to skin disorders, internal inflammatory responses, and fever-based conditions. The types of outwardly visible conditions involve facies not matching other known disorders, contracture of the joints, and skin lesions appearing across ...
The Canon of Medicine introduced the concept of a syndrome as an aid to diagnosis, and it laid out an essential framework for a clinical trial. [20] It was translated into Latin by Gerard de Sabloneta and it was used extensively in European medical schools. [20] [21] It also became the most authoritative text on anatomy until the 16th century. [22]
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Current Medical Diagnosis and Treatment is a standard medical reference work [1] published by McGraw-Hill. It is updated annually and the current 2022 version is its 61st edition. [ 2 ] The editors of the 61st edition were Stephen McPhee, Maxine Papadakis, Michael Rabow and Kenneth McQuaid.
HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, Strumpell disease, or Strumpell-Lorrain disease. The symptoms are a result of dysfunction of long axons in the spinal cord. The affected cells are the primary motor neurons; therefore, the disease is an upper motor neuron disease. [2]
A full recovery can be expected for people who seek treatment and do not have more lesions at 12 and 24 months. However, 50% of children under 2 with disseminated Langerhans cell histiocytosis die of the disease. The prognosis rate decreases for patients who experience lung involvement.