Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The term sudden hearing loss refers to hearing losses of sensorineural origin that evolve over a short period of time and are often of unknown origin. Common causes include damage to the cochleovestibular nerve by viral infection, autoimmune disease, vascular insult, and labyrinthine membrane rupture. A 70-year-old man had a history of recent diplopia, dysarthria, syncopal episodes, dysequilibrium, and the sudden onset of deafness in his right ear. Angiography demonstrated severe ulcerative stenosis of the right internal carotid origin and an anomalous vessel (probable remnant of hypoglossal artery) originating from the distal right internal carotid artery that perfused the entire distal vertebral and basilar artery circulation. Arch angiograms confirmed the absence of a proximal right vertebral artery and revealed a small left vertebral artery that ended in the cervical region without reaching the posterior fossa. Standard right carotid endarterectomy with patch angioplasty resolved all neurologic symptoms except for persistent unilateral deafness at 9 months' follow-up. Presumed embolization through this anomalous vessel to the internal auditory artery and subsequent cochlear and vestibular branches represents the first reported case of sudden hearing loss as a result of anterior circulatory ulcerative disease.
 ...
PMID:Unilateral sudden hearing loss as a result of anomalous carotid anatomy. 239 91

We report three members of a family, who exhibited a phenotype similar to 'myoclonus epilepsy with ragged-red fibers' but had a genotype usually associated with 'mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes'. The patients, a 48-year-old female, and her two sons, aged 21 and 19 respectively, presented with photo-reactive syncopal episodes, disturbances of gait and writing, dysarthria and finger tremor since the 3rd and 2nd decade of life, respectively, that were accompanied also by numbness and weakness of the extremities. Subsequently, cerebellar ataxia and myoclonus were also noted. Electromyography revealed both myogenic and neurogenic muscular changes, and nerve conduction studies demonstrated a sensory-motor neuropathy. Biopsy showed ragged-red fibers with strongly stained SDH-positive vessels in skeletal muscles, and a marked loss of myelinated fibers of the sural nerves. Mitochondrial (mt) DNA analyses of peripheral blood, muscles and nerves revealed that all members had a heteroplasmic np3271 (T-C) point mutation in the mitochondrial tRNA-Leu gene (UUR). This family is unique, in that all patients presented with a myoclonus epilepsy with ragged-red fibers-like phenotype and had a distinctive peripheral neuropathy, while the detected mtDNA 327l (T-C) mutation has been reported to date only in rare cases of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes
 ...
PMID:A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA. 1140 19