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HNPP is a rare disorder. Partly because it is so rare and partly because many people who have it only experience mild symptoms, it is difficult to tell what percentage of people have it. One range of estimates is from one in 50,000 up to about one in 33,333. [1] Another is from one in 119,049 up to one in 6,250. [12]
Symptoms of these disorders include: fatigue, pain, lack of balance, lack of feeling, lack of reflexes, and lack of sight and hearing, which result from muscle atrophy. Patients can also have high arched feet, hammer toes, foot drop, foot deformities, and scoliosis. These symptoms are a result of severe muscular weakness and atrophy.
Candida albicans infection; Candida parapsilosis infection; Cytomegalovirus infection; diphtheria; human coronavirus infection; respiratory distress syndrome; measles; meconium aspiration syndrome
Because of the little awareness on AMPS, the condition is frequently not diagnosed when symptoms first present, often with multiple diagnoses of physical conditions before the diagnosis of AMPS. [3] [12] The condition is diagnosed through observation of various patient traits. A full overview of the patients medical history, as well as out rule ...
Since people with this condition are unable to sweat, they are unable to properly regulate their body temperature. [1] Those affected are unable to feel pain and temperature. [2] [3] The absence of pain experienced by people with CIPA puts them at high risk for accidental self-injury. Corneal ulceration occurs due to lack of protective impulses ...
Fields condition, [1] also known as Fields' disease, [2] [3] is a neuromuscular disease that is considered the rarest medical condition in the world. It was named after Welsh identical twins Catherine and Kirstie Fields, who are two of only three people known to have been affected.
Overall prognosis is good in most patients, with one study showing recovery occurring in 94% and 89% of children and adults, respectively (some having needed treatment). [27] In children under ten, the condition recurs in about a third of all cases, usually within the four months of the initial attack. [6]
Floating–Harbor syndrome, also known as Pelletier–Leisti syndrome, is a rare disease with fewer than 50 cases described in the literature. [1] It is usually diagnosed in early childhood and is characterized by the triad of proportionate short stature with delayed bone age, characteristic facial appearance, and delayed speech development.