Glossary

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  • Developmental apraxia

    Developmental apraxia refers to a sensory integration problem that involves praxis and motor planning deficits. It can affect gross and fine motor performance as well as speech. The disorder is one of higher cortical process and results in problems with planning and executing learned, volitional movements. These children, however, show normal strength, tone, reflex, sensation,…

  • Transcortical aphasia

    Three types of transcortical aphasia were identified by Goldstein in 1948, including transcortical sensory aphasia, transcortical motor aphasia, and mixed transcortical aphasia. In transcortical motor aphasia, the damage occurs in the frontal lobe, anterior to Broca’s area along the motor speech cortex. The lesion is often deep in the cortical matter. In transcortical sensory aphasia,…

  • Jargon aphasia

    Jargon aphasia (JA) is an acquired language disorder in the comprehension and use of words, in which patients use incorrect words or sounds in place of intended words. The speech jargon in JA can be (a) paraphasic—grammatically intact with the inclusion of misused, semantically related words; (b) asemantic—intact speech with the inclusion of nonsense words,…

  • Apeced syndrome

    APECED is also known as autoimmune polyglandular disease Type I or autoimmune-polyendocrinopathy-candidias. APECED stands for autoimmune polyendocrinopathy (APE), candidiasis (C), and ectodermal dysplasia (ED). It is a very rare genetic syndrome that involves the autoimmune system. It is a combination of several distinct disorders and is defined as the subnormal functioning of several endocrine glands…

  • Antley-bixler syndrome

    This syndrome is a rare hereditary disorder. It causes distinctive deformities of the head and face. There are also other skeletal anomalies of the extremities.  

  • Aniridia cerebellar ataxia mental deficiency

    Aniridia cerebellar ataxia mental deficiency, also known as Gillespie syndrome, is characterized by mental retardation, partial absence of the iris of the eye (partial aniridia), and incoordination of voluntary movements due to underdevelopment of the brain’s cerebellum.  

  • Hereditary spherocytic hemolytic anemia

    The blood cells in individuals with hereditary spherocytic hemolytic anemia (HSHA) are sphere-shaped due to a defect within the blood cell as a result of a metabolic defect. Because of the cells’ shape, they are not readily passed through the small blood vessels of the spleen and are often prematurely destroyed by the spleen. The…

  • Hereditary nonspherocytic hemolytic anemia

    Hereditary non-spherocytic hemolytic anemia describes a group of blood disorders that may result from defects in red blood cell membranes, chemical abnormal metabolism, and approximately 16 enzyme deficiencies in the cells, such as glucose-6-phosphate dehydrogenase deficiency. The shape of the red blood cell is not changed as a result of the disorder. The two most…

  • Fanconi anemia

    Fanconi anemia (FA) was first reported by Guido Fanconi, a Swiss pediatrician, in 1927. Because FA is an autosomal recessive disorder that leads to bone marrow failure, both parents must carry the recessive gene for the child to have the disorder. People with FA do not produce a protein necessary for cell functioning; as the…

  • Diamond-blackfan anemia

    Diamond-Blackfan anemia (DBA) is a congenital deficiency in the precursor mechanism of red blood cells causing failure or low production rates of new blood cells in the bone marrow. The disease is usually present at birth or develops during the first year of life, with 50% of males developing the disease by 2 months of…

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