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Oct. 21, 2020
In typical HNPP, motor symptoms predominate over sensory symptoms. Slight compression of peripheral nerves and repeated local exercise leads to episodes of weakness with decreased perception to touch and pain. Attacks present with a single nerve involvement, with onset on awakening, and are usually triggered by mild compression that resolves in days to months.
Oct. 03, 2021
The original definition of Aicardi syndrome encompassed infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae. Additions to this core complex include other neuronal migration defects (eg, polymicrogyria, heterotopias); cerebral, cerebellar, costovertebral, and other ocular anomalies; distinctive facial traits; and a liability to develop intra- and extracranial neoplasms. Although the gene associated with this disorder is not known, it is believed to be located on the X chromosome.
Nov. 07, 2020
Neuromuscular syndromes of the paraspinal muscles comprise the dropped head syndrome and the bent spine syndrome (camptocormia). Although these phenotypes
Feb. 15, 2021
May. 21, 2021
Childhood Degenerative & Metabolic Disorders
GM2 gangliosidoses are caused by beta-hexosaminidase deficiency. There are 2 major phenotypes: Tay-Sachs disease, caused by beta-hexosaminidase A deficiency, and Sandhoff disease, caused by beta-hexosaminidase A and B deficiency. Carrier detection in risk populations is successful in prevention.
May. 25, 2019
Alexander disease is an autosomal dominant glial cell disease caused most often by de novo heterozygous mutations in the GFAP gene. It is a leukodystrophy in young children but may present as a glial tumor in older patients and adults. Alexander disease is inexorably progressive, but the rate of functional loss is variable.
Dec. 27, 2019
Core myopathies represent the most common form of congenital myopathies, involving early-onset neuromuscular disease that often presents with stable or slowly progressive truncal and proximal weakness. There is a wide clinical spectrum, with severity ranging from mild to severe. Central core disease and multiminicore disease are the most common congenital myopathy forms.
Jun. 29, 2020