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At least 1,063 records · Page 59Linked to original sources
PubMed1992

Hemifacial spasm: evaluation by magnetic resonance imaging and magnetic resonance tomographic angiography.

We evaluated 37 patients with hemifacial spasm and 16 age-matched control patients with other neurological disorders using magnetic resonance (MR) imaging, MR angiography, and MR tomographic angiography. MR tomographic angiography is a new technique using computer reconstruction of MR angiographic images to create coronal angiotomes that display tissue and arterial structures on the same image. Twenty-four of 37 (64.9%) patients with hemifacial spasm had ipsilateral vascular compression of cranial nerve VII or the pons noted by this technique, whereas only 1 of 16 (6.3%) control patients had compression. MR imaging and MR angiography were less sensitive and less specific in evaluating for vascular compression. This study supports vascular compression of cranial nerve VII or the pons as a cause of hemifacial spasm, and demonstrates MR tomographic angiography's value as an excellent, noninvasive technique to demonstrate the compression.

Adult↗
PubMed1997

Machado-Joseph disease: clinical, molecular, and metabolic characterization in Chinese kindreds.

Machado-Joseph disease, an autosomal dominant multisystem motor degeneration, has been described mainly in people of Portuguese descent. Our report documents the presence of Machado-Joseph disease in the Chinese population, based on the specific molecular marker of a CAG repeat array in the 3' end of the MJD gene. We screened 21 Chinese families with dominant spinocerebellar ataxia. The results showed that Machado-Joseph disease with CAG expansion accounted for 52% of families with autosomal dominant cerebellar ataxia in this series. The clinical characteristics, besides the well-documented cerebellar ataxia, dysarthria, nystagmus, corticospinal dysfunctions, a variable degree of facial muscle fasciculation, and proprioceptive loss, included loss of optokinetic nystagmus and autonomic nervous system dysfunction. The CAG repeat number in the MJD gene ranged from 14 to 39 among normal alleles, and from 63 to 81 among MJD alleles. There was a strong inverse correlation (gamma = -0.77) between number of CAG repeats and age at symptom onset, accounting for 60% of the variance of age at onset. A strong clinical anticipation of age at onset existed in successive generations. Mild instabilities of expanded CAG repeat numbers during meiotic transmission occurred, with no significant difference according to the gender of the transmitting parent. Finally, brain metabolism in Machado-Joseph disease, studied with positron emission tomography, was characterized by significant progressive regional hypometabolism in the occipital cortex, as well as the cerebellar hemispheres, vermis, and brainstem.

Adult↗
PubMed1979

Rehabilitation of the face following traumatic injury to the facial nerve.

Etiology, diagnosis, and surgical management of facial paralysis due to traumatic injury of the VIIth cranial nerve are discussed. Sixty patients are reviewed who underwent some type of surgical procedure for the repair of the facial nerve. These cases are categorized according to etiology, which includes temporal bone fractures, iatrogenic injuries, and penetrating wounds of the head and neck. The results of a poll of eight leading otologists on their approaches to several aspects of the surgical management of these injuries are presented in the Discussion section. The diagnostic and prognostic studies associated with facial paralysis, as well as the more common surgical procedures available for repair of the facial nerve, are briefly reviewed.

Adolescent↗
PubMed2002

Athetosis II: the syndrome of mild athetoid cerebral palsy.

We describe 8 patients who presented with continuous, irregular movements occurring independently in individual fingers and, in some cases, toes, in the setting of mild dystonia present since early childhood and not associated with major disability. The finger movements varied from low-amplitude quivering or wriggling to larger amplitude movements in the plane of abduction-adduction as well as flexion-extension; they were asymmetrical but not unilateral. Quivering or working of the facial muscles was seen in 5 patients. Most patients reported worsening of the movements over the years, but there was no other evidence of a progressive neurological disease. We classify the movement disorder as athetosis as described by Hammond and Shaw and the syndrome as mild athetoid cerebral palsy.

Adolescent↗
PubMed2001

Bilateral pallidal stimulation for idiopathic segmental axial dystonia advanced from Meige syndrome refractory to bilateral thalamotomy.

Meige syndrome is an adult-onset dystonic movement disorder that predominantly involves facial muscles, while some patients with this syndrome develop spasmodic dysphonia and dystonia of the neck, trunk, arms, and legs. We report that all dystonic symptoms that had been refractory to both pharmacotherapy and bilateral thalamotomy were markedly alleviated by bilateral pallidal stimulation in a patient with segmental axial dystonia advanced from Meige syndrome.

Dominance, Cerebral↗
PubMed2007

Asynchronous blepharospasm, facial and cervical dystonia, and bilateral asynchronous hemifacial spasm.

We present a patient with a facial movement disorder that has characteristics of both blepharospasm and bilateral asynchronous hemifacial spasm. Because of the increased incidence of blepharospasm in patients with hemifacial spasm, our patient's clinical presentation is probably not a chance occurrence, but rather a manifestation of some predisposition for these two movement disorders. This unusual constellation of signs and symptoms challenges the current diagnostic criteria and suggests that some of these facial movement disorders may lie on a spectrum, rather than represent distinct entities.

Aged↗
PubMed1992

A case of bilateral alternating hemifacial spasms.

We report a 24-year old woman who developed bilateral hemifacial spasm alternating from one side to the other. The spasms followed a left peripheral facial palsy 2 years previously. This unusual type of bilateral hemifacial spasm was possibly due to lesions of multiple sclerosis in the brainstem.

Adult↗
PubMed1997

Kinematic analysis of articulatory movements in central motor disorders.

The various components of the central motor system are expected to play a similar role in speech production and in upper limb control. Slowed articulatory performance, therefore, must be expected in disorders of the corticobulbar tracts, cerebellum, and basal ganglia. Using an optoelectronic device, the present study recorded lower lip trajectories during production of sentence utterances in patients with Parkinson's disease (PD), Huntington's disease (HD), cerebellar atrophy (CA), and pseudobulbar palsy (PB). The various subject groups showed a similar range of overall motor disability. Patients with CA and PB exhibited slowed movement execution in terms of a reduced ratio of peak velocity to maximum amplitude ("stiffness"). In contrast to upper limb motor control, the lip excursions showed an uncompromised shape of velocity profiles. Two different patterns emerged in HD. A single patient suffering from the akinetic-rigid Westphal variant of this disease had articulatory hypometria, whereas the remaining subjects showed significant bradykinesia under increased temporal demands, concomitant with normal movement amplitudes. The PD patients had unimpaired velocity-displacement relationships. Presumably, biomechanical constraints such as the rather small excursions of articulatory lower lip gestures or the scarce spindle supply of facial muscles account for the observed discrepancies between upper limb and speech motor control in PD.

Aged↗
PubMed1985

Electrophysiology of the facial nerve in hemifacial spasm: ectopic/ephaptic excitation.

Pathologic and pathophysiologic findings in hemifacial spasm are reviewed in connection with recent theoretical and experimental studies of ectopic/ephaptic excitation. The intracranial segment of the normal facial nerve is ensheathed by an arachnoid membrane only and shows no fascicular organization. In hemifacial spasm, this segment shows signs of demyelination. Several electrical phenomena relating to ectopic excitation, ephaptic transmission between facial nerve fibers, and autoexcitation can be reproduced in clinical electrophysiologic studies of hemifacial spasm. These abnormalities gradually disappear after facial nerve decompression in the cerebellopontine recess. It is concluded that the normal facial nerve is vulnerable to minor compression, the primary pathophysiologic mechanism in hemifacial spasm is ectopic/ephaptic excitation due to compression and demyelination of the intracranial segment of the facial nerve, and the facial nerve in hemifacial spasm is a useful model for the study of ephaptic transmission, which has provided new information about the resolution of abnormal electrical events after decompression.

Blinking↗
PubMed1994

Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship.

A large family is described with an autosomal dominant distal myopathy, the nature of which prompts the reevaluation of current classifications of these disorders. The disease begins in early to middle adulthood with gait disturbance due to distal leg weakness, and progresses over 5-10 years to involve all extremities, as well as bulbar, respiratory, and facial muscles. There is frequent cardiac involvement, manifest by arrhythmias, conduction blocks, and congestive failure, resulting in premature demise. On electromyography there is prominent spontaneous activity, short duration motor unit potentials, and polyphasia. Muscle biopsies from multiple family members at different stages of the disease are characterized by desmin storage and autophagocytosis. This distal myopathy differs from other phenotypically similar disorders in its rapidity of progression, fatal course and pathologic features. The role and specificity of excessive desmin accumulation in this and other myopathic and cardiac disorders are unknown.

Adult↗
PubMed1994

Cranial nerve conduction and needle electromyography in patients with acoustic neuromas: a model of compression neuropathy.

Of 45 patients with acoustic neuromas (0.3-5.0 cm), 73% had facial nerve impairment on electrophysiologic testing, but only 16% had facial weakness. Cranial nerve conduction was the most sensitive measurement, especially prolongation of the ipsilateral R1 latency of the blink reflex compared with that of the contralateral reflex. The severity of nerve conduction abnormality was highly correlated with tumor size. Our results confirm and quantitate the sensitivity of nerve action potential latency in response to chronic nerve compression.

Adult↗