Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hemifacial spasm is a peripheral myoclonus of the VIIth cranial nerve that is characterized by paroxysmal contraction of the muscles of facial expression. It exists in both primary and secondary forms. In rare cases, hemifacial spasm is caused by middle ear pathology. We describe the case of a 90-year-old man with recurrent cholesteatoma and tympanic segment fallopian canal dehiscence manifesting as right-sided hemifacial spasm. His history was significant for a right-sided tympanomastoidectomy for cholesteatoma 6 years earlier. Computed tomographic angiography performed to look for vascular compression of the facial nerve demonstrated a right middle ear opacification. Middle ear exploration revealed a completely dehiscent tympanic segment with cholesteatoma abutting the facial nerve. The overlying keratin debris and matrix were carefully dissected off, and facial nerve function was preserved. The final diagnosis was hemifacial spasm. During 14 months of postoperative follow-up, the patient experienced no further facial spasm.
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PMID:Hemifacial spasm secondary to middle ear cholesteatoma. 3003 21

Objective and subjective tinnitus can often be differentiated based on comprehensive history, physical examination, and audiogram. Examples of objective tinnitus include vascular abnormalities, palatal myoclonus, patulous eustachian tube, and stapedial/tensor tympani muscle spasm. Subjective tinnitus is usually associated with hearing loss. Rarely, tinnitus is the result of an underlying condition. In these cases, imaging and additional testing may be indicated. Classification of the type, quality, and intensity of tinnitus is helpful in the work-up and treatment of tinnitus. Treatment modalities include cognitive behavioral therapy, tinnitus retraining therapy, sound therapy, hearing aids, cochlear implants, pharmacotherapy, and brain stimulation.
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PMID:Tinnitus. 3034 10

Benign spasms of infancy (BSI), previously described as benign non-epileptic infantile spasms or benign myoclonus of early infancy, are non-epileptic movements manifesting during the first year of life and spontaneously resolving in the second year of life. BSI are characterized by spasms typically lasting 1-2 seconds, involving, to varying degrees, the head, neck, trunk, shoulders and upper extremities. Ictal and interictal EEG recordings are normal. BSI are not associated with developmental regression and do not require treatment. Distinction between BSI and infantile epileptic disorders, such as epileptic spasms or myoclonic epilepsy of infancy, can be challenging given the clinical similarities. Moreover, interictal EEGs can be normal in all conditions. Epileptic spasms and myoclonic epilepsy require timely treatment to improve neurodevelopmental outcomes. We describe a six-month-old infant presenting with spasm-like movements. His paroxysms as well as a positive family history for epileptic spasms were in keeping with a likely diagnosis of West syndrome. Surprisingly, ictal video-EEG did not reveal epileptiform activity, and suggested a diagnosis of BSI. We emphasize that ictal video-EEG is the gold standard for classification of infantile paroxysms as epileptic or non-epileptic, thereby avoiding over-treatment for BSI and facilitating timely targeted treatment of infantile epilepsies. [Published with video sequences].
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PMID:Benign spasms of infancy: a mimicker of infantile epileptic disorders. 3184 33

Pathogenic variants in SCN8A have originally been described in patients with developmental and epileptic encephalopathy (DEE). However, recent studies have shown that SCN8A variants can be associated with a broader phenotypic spectrum, including the following: (1) Patients with early onset, severe DEE, developing severe cognitive and motor regression, pyramidal/extrapyramidal signs, and cortical blindness. Severe SCN8A-DEE is characterized by intractable seizures beginning in the first months of life. The seizures are often prolonged focal hypomotor and occur in clusters, with prominent vegetative symptoms (apnea, cyanosis, mydriasis), evolving to clonic or bilateral tonic-clonic manifestations. Spasm-like episodes, cortical myoclonus, and recurrent episodes of status epilepticus are also common. Electroencephalograms (EEGs) show progressive background deterioration and multifocal abnormalities, predominant in the posterior regions. (2) Sporadic and familial patients with mild-to-moderate intellectual disability, discrete neurological signs, and treatable epilepsy. EEG is abnormal in half of the cases, showing multifocal or diffuse epileptiform abnormalities. (3) Familial cases with benign infantile seizures, sometimes associated with paroxysmal dyskinesia later in life, with no other neurological deficits, normal cognition, and usually normal interictal EEG. (4) Patients without epilepsy but with cognitive and/or behavioral disturbances, or with movement disorders. Extrapyramidal features, such as dyskinesia, ataxia, and choreoathetosis are common in all groups. Early death has been reported in about 5% of the patients, most often in the subgroup of severe DEE. Premature death occurs during early childhood and often for causes other than sudden unexpected death in epilepsy. All epilepsy subgroups exhibit better seizure control with sodium channel blockers, usually at supratherapeutic doses in the severe cases. In severe SCN8A-DEE, ketogenic diet often has a good effect, whereas levetiracetam has a negative effect, if any. The familial SCN8A-related epilepsies show an autosomal dominant pattern of inheritance, whereas the vast majority of SCN8A-DEEs occur de novo.
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PMID:Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes. 3190 24


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