Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0026838 (
spasticity
)
6,471
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Clinical features of a rare congenital myopathy, muscle-eye-brain (MEB) disease, are described in 19 patients. The pedigree data suggest an autosomal recessive inheritance. The patients presented with congenital hypotonia and muscle weakness. Serum CK was elevated, EMG was myopathic and muscle biopsy showed slight or moderate changes compatible with muscular dystrophy. Ophthalmological findings included severe visual failure and uncontrolled eye movements associated with severe
myopia
. The flash VEPs were exceptionally high, whereas non-corneal ERG was unrecordable. The EEG showed progressive abnormalities after the age of 6 months. Psychomotor development was slow during the first years of life, and mental retardation was severe. Most patients began to deteriorate around age 5 years. This change included
spasticity
and joint contractures. CT scans showed ventricular dilatations and abnormally low white matter density in several patients.
Spasticity
, high VEPs and ocular manifestations differentiate MEB from the Fukuyama type congenital muscular dystrophy.
...
PMID:Muscle-eye-brain disease (MEB) 236 Jul 4
Spasm of accommodation refers to prolonged contraction of the ciliary muscle, most commonly causing pseudomyopia to varying degrees in both eyes by keeping the lens in a state of short sightedness. It may also be manifested as inability to allow the adaptation
spasticity
prevailing in the ciliary muscle relax without measurable
myopia
. As a rule, this is a functional ailment triggered by prolonged near work and stress. The most common symptoms include blurring of distance vision, varying visual acuity as well as pains in the orbital region and the head, progressing into a chronic state. Cycloplegic eye drops are used as the treatment.
...
PMID:[Spasm of accommodation]. 2460 32