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Pfeiffer syndrome. Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes. Pfeiffer syndrome is caused by mutations ...
Niemann–Pick type C (NPC) (colloquially, "Childhood Alzheimer's " [1]) is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann–Pick type C affects an estimated 1:150,000 people. [2] Approximately 50% of cases present before 10 years of age, but manifestations may first be recognized as late as the sixth decade.
Lafora disease is a rare, adult-onset and autosomal recessive [4] genetic disorder which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells in the heart, liver, muscle ...
August 19, 2024 at 1:30 AM. Dementia has 2 shocking new risk factors, study finds, with total of 14 now on list. Two surprising new risk factors for Alzheimer’s disease are noted in a new study ...
Specialty. Hematology. X-linked severe combined immunodeficiency (X-SCID) is an immunodeficiency disorder in which the body produces very few T cells and NK cells. In the absence of T cell help, B cells become defective. [1] It is an X-linked recessive inheritance trait, stemming from a mutated (abnormal) version of the IL2RG gene located on ...
Signs and symptoms are classified into three groups based on the affected functions of the frontal and temporal lobes: [8] These are behavioural variant frontotemporal dementia, semantic dementia, and progressive nonfluent aphasia. An overlap between symptoms can occur as the disease progresses and spreads through the brain regions.
CHILD syndrome. This condition is inherited in an X-linked dominant manner. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as " CHILD syndrome ") is a genetic disorder with onset at birth seen almost exclusively in females. [1]: 485 The disorder is related to CPDX2, and also has skin and skeletal ...
Childhood disintegrative disorder (CDD), also known as Heller's syndrome and disintegrative psychosis, is a rare condition characterized by late onset of developmental delays—or severe and sudden reversals—in language (receptive and expressive), social engagement, bowel and bladder, play and motor skills. [3][4] Researchers have not been ...