Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0231530 (twitching)
 2,043 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Muscle weakness, studied in 4 patients with multiple sclerosis (MS), was compared with values from normal subjects. Twitch occlusion showed that normal subjects could activate their muscles maximally, but patients rarely achieved greater than 60% activation. In both groups, motoneuron firing rates increased linearly with force. Consistent with the reduced level of activation, MCV firing rates in MS muscles rarely exceeded 17 Hz (compared with approximately 24 Hz for normals). However, for right and left muscles of one patient, mean maximum firing rates were 14.2 +/- 2 Hz and 8.0 +/- 2 Hz, but her muscles, could be activated to levels greater than 92% and 60%, respectively. This patient's ability to achieve higher than expected forces at low firing rates was probably due to her slow muscle contractile speeds, especially 1/2-relaxation time (75 to 115 ms, cf. approximately 60 ms for normals), and high twitch/tetanus ratio (0.4, cf. 0.2).
 ...
PMID:Neuromuscular responses of patients with multiple sclerosis. 140 70

A 33-year-old otherwise healthy male presented with a week-long history of isolated right lower eyelid myokymia. Two weeks later, the patient's myokymia had progressed to include twitching of the right brow and right upper lip. Imaging revealed multiple demyelinating lesions consistent with multiple sclerosis. A review of eyelid and facial myokymia, along with possible concerning causes is provided, geared towards the oculoplastic surgeon. Eyelid myokymia, typically a benign condition, may rarely evolve into facial myokymia reflective of underlying brainstem disease.
 ...
PMID:Eyelid myokymia: not always benign. 2195 85

Hemifacial spasm (HFS) is characterised by brief, persistent, involuntary paroxysmal contractions of the facial muscles innervated by the facial nerve. Broadly its aetiology is portrayed as primary and secondary. Primary HFS is a result of vascular compression of the ipsilateral facial nerve at its root exit zone, and secondary HFS can occur after any injury to the facial nerve from the internal auditory canal to the stylomastoid foramen, which may be a result of a cerebellopontine angle tumour, schwannoma, fusiform aneurysm, or demyelinating lesion such as multiple sclerosis. We report a rare case of HFS in a 40-year-old female patient, who presented with a 4-year history of twitching of the left eye and deviation of the mouth towards the left side. An MRI of the brain revealed a vascular anomaly at the root exit zone of the left facial nerve. The present report aims to highlight MRI as a single, non-invasive diagnostic investigation to confirm the diagnosis of HFS.
 ...
PMID:Hemifacial spasm secondary to vascular loop compression: a rare case report. 3048 26

BACKGROUND Progressive multifocal leukoencephalopathy (PML) is a serious opportunistic infectious disease with high morbidity and mortality. Its incidence in multiple sclerosis (MS) patients has risen since the introduction of disease modifying drugs. In the absence of a specific treatment, the outcome depends heavily on early diagnosis, which illustrates the importance of the role of characteristic brain magnetic resonance imaging (MRI). However, when relying mainly on MRI, the diagnosis of cases with atypical radiological changes may be missed or delayed. CASE REPORT A 32-year-old female diagnosed with elapsing remitting MS in 2009 was started on interferon-beta-1b that was escalated to natalizumab due to progression of the disease. Later, she was shifted to fingolimod as testing for John Cunningham polyoma virus (JCV) antibodies was positive. Three years later, she presented with a 3-week history of progressive walking impairment associated with twitching of her facial muscles and abnormal sensation all over her body that was associated with left hemi-paresis and sensory changes, in addition to truncal ataxia, which was treated with steroids as a relapse of MS. However, the patient continued to deteriorate and developed significant cognitive and behavioral changes. In view of this clinical picture, the diagnosis of PML was raised in spite of her atypical brain MRI features. Treatment with fingolimod was stopped and a sample of her cerebrospinal fluid was sent for JCV DNA analysis, which came back positive at 11 copies/mL. Treatment with mirtazepine and mefloquine was started, but the patient deteriorated further, and MRI showed severe changes consistent with immune reconstitution inflammatory syndrome. Intravenous steroids and intravenous immunoglobulin were given, and within a few weeks, the patient was stabilized and started to gradually improve. CONCLUSIONS In patients at risk for developing PML who present with typical clinical features, testing for JCV DNA is recommended even in the absence of typical radiological findings in order to prevent any delay in the diagnosis.
 ...
PMID:Progressive Multifocal Leukoencephalopathy in the Absence of Typical Radiological Changes: Can We Make a Diagnosis? 3067 65