Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Twenty five patients with motor neuron disease completed a double blind randomised cross over trial of RX77368, a stabilised TRH analogue, iv over 2 hours against saline. Temporary improvement in bulbar symptoms including speech, respiratory parameters, tongue movements and swallowing were seen. Fasciculations increased and spasticity decreased. Change in muscle force with drug was different from placebo but both increase and decrease in force were seen and did not result in detectable changes in function. Side effects were clinically significant in 50% of the patients and cleared within 12 hours. Prolonged rise of thyroxine and an increase in plasma levels of prolactin, thyroid stimulating hormone and growth hormone were seen and followed characteristic patterns.
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PMID:Controlled acute trial of a thyrotrophin releasing hormone analogue (RX77368) in motor neuron disease. 311 76

Thyroid hormone is essential for the proper development and function of the brain. The active form of thyroid hormone is T(3), which binds to nuclear receptors. Recently, a transporter specific for T(3), MCT8 (monocarboxylate transporter 8) was identified. MCT8 is highly expressed in liver and brain. The gene is located in Xq13 and mutations in MCT8 are responsible for an X-linked condition, Allan-Herndon-Dudley syndrome (AHDS). This syndrome is characterized by congenital hypotonia that progresses to spasticity with severe psychomotor delays. Affected males also present with muscle hypoplasia, generalized muscle weakness, and limited speech. Importantly, these patients have elevated serum levels of free T(3), low to below normal serum levels of free T(4), and levels of thyroid stimulating hormone that are within the normal range. This constellation of measurements of thyroid function enables quick screening for AHDS in males presenting with cognitive impairment, congenital hypotonia, and generalized muscle weakness.
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PMID:The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. 1757 10