Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 42-year-old woman had multiple pilomatrixomas of the scalp and trunk. Generalized cutis marmorata and Raynaud's syndrome were also present. The skin consistency was noticeably abnormal, being soft and stretchable. Her facies was typically myopathic, there was muscular paresis and atrophy, her speech was slurred, and her intelligence low. A diagnosis of dystrophia myotonica was made, previously unrecognized in this patient. Dystrophia myotonica is a genetic condition involving several systems, including the skin, mainly in the form of pilomatrixomas and vasomotor changes. Dystrophia myotonica is therefore of interest to the dermatologist for other reasons than the well-known testicular atrophy.
 ...
PMID:[Multiple pilomatrixomas as symptoms of Curschmann-Steinert myotonia dystrophica]. 709 91

Botulinum toxin (BT) is a potent local muscle relaxant with analgetic properties. Myotonia congenita (MC) is a genetic disorder producing muscle rigidity and pain. BT injected into the trapezius produced mild paresis, but no effect on rigidity and pain. There were no signs of systemic effects. Lack of BT efficacy on MC rigidity confirms its origin from muscle membrane dysfunction rather than from inappropriate neuromuscular activation. Lack of BT efficacy on pain could be caused by lack of anti-rigidity effect. It could also be due to separate non-muscular pain mechanisms unresponsive to BT.
...
PMID:Botulinum toxin in myotonia congenita: it does not help against rigidity and pain. 2435 52