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PubMed1984

Facioscapulohumeral muscular dystrophy and accompanying hearing loss.

Facioscapulohumeral (FSH) muscular dystrophy (MD) is an autosomal dominant condition marked by muscle weakness primarily in the face, shoulder girdle, and legs. Intelligence and life span are normal and the spectrum of disability is broad. Flaccid dysarthria results from the facial muscle paralysis. A pair of siblings had FSH MD that was accompanied by the unusual finding of sensorineural hearing loss. Speech and audiologic aspects are presented and etiologic explanations are suggested. Careful audiologic evaluation of all patients with FSH MD is advised so that sensorineural hearing loss can be ruled out.

Adolescent↗
PubMed2006

Brainstem circuits that control mastication: do they have anything to say during speech?

UNLABELLED: Mastication results from the interaction of an intrinsic rhythmical neural pattern and sensory feedback from the mouth, muscles and joints. The pattern is matched to the physical characteristics of food, but also varies with age. There are large differences in masticatory movements among subjects. The intrinsic rhythmical pattern is generated by an assembly of neurons called a central pattern generator (CPG) located in the pons and medulla. The CPG receives inputs from higher centers of the brain, especially from the inferio-lateral region of the sensorimotor cortex and from sensory receptors. Mechanoreceptors in the lips and oral mucosa, in muscles, and in the periodontal ligaments around the roots of the teeth have particularly powerful effects on movement parameters. The central pattern generator includes a core group of neurons with intrinsic bursting properties, as well as a variety of other neurons that receive inputs from oral and muscle spindle afferents. Reorganization of subpopulations of neurons within the CPG underlies changes in movement pattern. In addition to controlling motoneurons supplying the jaw, tongue, and facial muscles, the CPG also modulates reflex circuits. It is proposed that these brainstem circuits also participate in the control of human speech. LEARNING OUTCOMES: Readers will be able to: (1) describe the general location and function of the central pattern generator for mastication, (2) identify the primary nuclei involved in the central pattern generator for mastication, (3) describe the general interactions among the central pattern generators of speech, mastication, respiration, and locomotion, and (4) compare/relate the brainstem systems controlling mastication and speech.

Animals↗
PubMed2004

Portable stimulator design aimed at differentiating facial nerves from normal tissues.

Facial nerves are very prone to risk of being cut away in the facial surgeries. In order to differentiate the normal tissues from the nerves during the surgeries, facial stimulator is very essential. These stimulators are particularly useful in triggering action potentials in the facial muscle tissue. In the case of any damage to these nerves, paralysis is unavoidable. Second use of the stimulator would be to diagnose how severe the facial problems are. Third use, which is a noninvasive application, is the employment of facial stimulator to treat and diagnose facial problems that arose from temperature differences, cuts or strain. The stimulation is achieved through DC voltage pulses that conform to user-specified amplitude, pulse duration and pulse intervals. These variables are set according to the age, sex, and physiological conditions of the patient. Peripheral Interface Controller is used to derive different pulse patterns. The current specifications of our stimulator are a range of 0.1-20 V pulse amplitude, 0.1-2 msec pulse duration, and 0.05-1 sec pulse interval. The main benefits of our stimulator are its graphic display that shows the form of pulse, its compact size, and operation on a battery power supply and adaptability to convert to other stimulation applications.

Electric Stimulation↗
PubMed2000

[A patient with limb-girdle type myasthenia gravis and atopic dermatitis, both of which improved after thymectomy].

We herein report a patient with myasthenia gravis (MG) and atopic dermatitis (AD). Heretofore, there have been no reports of patients with MG and AD. Nine years ago, a 25-year-old man noted muscle weakness of upper and lower extremities on physical labor, and the muscle weakness was gradually exacerbated. Two years ago, he noted acute skin eczema with itching on his hands and feet. Neurological examination revealed mild left ptosis, facial muscle weakness and proximal muscle weakness of upper and lower extremities, but no diplopia, ophthalmoplegia or dysphagia. Although anti-nicotinic acetylcholine receptor antibody was negative, edrophonium test was positive and 54% waning in the thenar muscles was observed on Harvey-Masland test. Thus, he was diagnosed as limb-girdle type MG. IgE level in his serum elevated (1,818 U/ml). After thymectomy, the muscle weakness markedly improved as well as waning in the thenar muscles (11%). Simultaneously, AD markedly improved and serum IgE level was decreased (1,245 U/ml). Thus, MG and AD in this case may be derived from some common immunological aberrancy in the thymus.

Adult↗
PubMedDate not supplied

Changes in the phosphorylation of neurofilament proteins in facial motoneurons following various types of nerve lesion.

This report defines the conditions for changes in the phosphorylation state of neurofilaments (NF) after facial nerve lesions. In adult control rats, few phosphorylated neurofilament (pNF) epitopes were stained (using SMI 31 antibodies) in a small subpopulation of facial motoneurons. After various types of mechanical lesion (nerve transection with and without attaching a metal clip to the proximal nerve trunk, nerve crush, combined trigeminal and facial nerve lesions) of the right facial nerve, pNF immunoreactivity transiently increased in most cell bodies of facial motoneurons on the operated side. This pNF 'reaction' started within 2 days after the operation and persisted up to 2 weeks but remained longer in those animals in which axonal regeneration had been prevented or delayed by attaching a metal clip to the proximal nerve stump. After botulinum toxin application into facial muscles (i.e. inhibition of synaptic transmission at motoric endplates) there was no increase in the amount of pNF after 4 and 10 days, but it appeared in facial nuclei 4 weeks after injection on both, the treated and the untreated side, i.e. during functional restitution. Selectively transecting the 'vibrissal part' of the trigeminal nerve induced no obvious changes in the pNF immunoreactivity in facial motoneurons, but a combined trigeminal-facial lesion did. Labeling nonphosphorylated epitopes (using SMI 32 antibodies) showed a slight decrease in immunoreactivity in the neuropil of the facial nucleus 15 days after nerve transection and fixing a metal clip on the proximal nerve stump.

Animals↗
PubMed1984

Current medical treatment for facial palsy.

Medical treatment for facial palsy includes an accurate diagnosis and reliable estimate of prognosis as well as appropriate medication. Cranial polyneuritis (Bell's palsy and Ramsay Hunt syndrome), the most common cause of facial palsy, is an inflammatory, autoimmune, demyelinating disease best treated by parenteral steroids without surgical intervention. The antiviral agent acyclovir is now being tested as an adjunct to or replacement for steroid therapy. Trauma, the second most common cause of facial palsy, is often treated with steroids, but no controlled study has ever been performed. However, animal experiments clearly demonstrate that steroid treatment of a compressed facial nerve accelerates repair of the mechanical injury and decreases time of recovery. Acute otitis media with facial palsy is best treated with myringotomy, appropriate antibiotics, and steroid therapy. The use of steroids with antibiotics improves the resolution of middle ear exudate fourfold, compared with the use of antibiotics alone. Other treatment modes in selected cases are discussed. Physiotherapy in the form of electrical stimulation of the facial muscles is not advised.

Acyclovir↗
PubMed1993

Blink reflex and the masseter inhibitory reflex in patients with dystonia.

The excitatory and inhibitory interneuronal pathways in the brainstem are tested by examining the blink reflex and the masseter inhibitory reflex, respectively. We studied the R2 component of the blink reflex and the SP2 component of the masseter inhibitory reflex and their recovery cycle in 56 patients with various forms of dystonia. In patients with cranial, cervical, and generalized dystonia, but not in patients with extracranial segmental dystonia, the recovery cycle of both reflexes was enhanced. The recovery cycle of R2 and SP2 can demonstrate subclinical changes in excitability of brainstem interneurons. The degree of enhancement of the recovery cycles did not correlate, however, with the severity of clinical facial muscle impairment. In addition, the recovery cycles correlated positively with each other, showing that excitatory as well as inhibitory interneuronal pathways in the brainstem are perturbed in dystonia. Study of the trigemino-facial and trigemino-trigeminal reflexes provides an objective tool for assessing functional abnormalities in dystonia.

Adult↗
PubMed1988

Vascularized innervated transfer of the clavicular head of the pectoralis major muscle in established facial paralysis.

Twenty cadaver dissections of the clavicular head of the pectoralis major muscle were carried out to determine the detailed anatomical arrangement of the vascular and nerve supply, with a view to using this muscle as an independent neuromyovascular unit in the treatment of established facial palsy. In all dissections, the muscle was found to have an independent nerve and vascular supply. A clinical case is reported with anatomical description and essential details of the operative technique. The ideal neuromyovascular unit is briefly described and the advantages of the pectoralis major for this use are illustrated. It is emphasized that limiting the goals of free muscle transfer to reanimation of the lower facial musculature will produce the most satisfactory results.

Adult↗
PubMed2006

Improved outcome of facial nerve repair in rats is associated with enhanced regenerative response of motoneurons and augmented neocortical plasticity.

Within a recent study on the vibrissae motor performance after facial nerve repair in strains of blind (SD/RCS) and sighted (SD) rats we found that, despite persisting myotopic disorganization in the facial nucleus, the blind animals fully restored vibrissal whisking. Here we searched for morphological substrates of better recovery in the regenerating motoneurons and in the cerebral motor cortex. Expression analyses of the neurite growth-related proteins f-actin, neuronal class III beta-tubulin and plasticity-related gene-1, and stereological estimates of growth cone densities revealed a more vigorous regenerative response in the proximal nerve stump of blind SD/RCS rats compared with SD animals at 5-7 days after buccal nerve transection. Using c-Fos immunoreactivity as a marker for neuronal activation, we found that the volume of the cortex acutely responding to nerve transection (facial muscles reactive volume, FMRV) in both hemispheres of intact sighted rats was twofold smaller than that measured in blind animals. One month after transection and suture of the right facial nerve (FFA) we found a twofold increase in the FMRV in both rat strains compared with intact animals. The FMRV in SD/RCS animals, but not in SD rats, returned to the values in intact rats 2 months after FFA. Our findings suggest that enhanced plasticity in the CNS and an augmented regenerative response of the injured motoneurons contribute to better functional recovery in blind rats.

Actins↗
PubMed2004

Surgical treatment of glomus jugulare tumors without rerouting of the facial nerve: an infralabyrinthine approach.

OBJECT: Glomus jugulare tumors are benign lesions located in the jugular foramen that may or may not extend into the middle ear, petrous apex, and upper neck; these growths sometimes invade intradurally. The surgical management of these tumors is a challenge to neurosurgeons and skull base surgeons. Because of their abundant vascularity, deep location, complex anatomy, and difficult surgical approach, their treatment, has been a controversial issue for many years. Despite advancements in nonsurgical techniques, the only treatment with proven efficacy is radical surgical removal. The authors present a series of patients treated with radical removal, in which the feasibility of removing glomus jugulare tumors with low morbidity and a surgical approach limited to tumor removal are discussed. The extent of surgical exposure is tailored with emphasis placed on the routine anterior transposition of the facial nerve. METHODS: Between May 1997 and March 2004, 24 patients with glomus jugulare tumors were treated; 17 patients were women and seven were men. Their mean age at the time of diagnosis was 50 years (range 18-71 years). The most common symptom was hearing loss in 77%, followed by dysphagia and dysphonia in 55% of patients. In seven patients the clinical presentation was a facial palsy. Radical tumor removal was achieved in 23 patients. An anterior facial nerve transposition was not needed in any case. No surgery-related death was recorded in this series, although one patient died of a pulmonary embolism 70 days after the procedure. A one-stage procedure was performed in 23 patients and a two-stage procedure was used in the other patient. Cerebrospinal fluid leakage occurred in two patients. The lower cranial nerve function was worse in eight patients; however, only one had a new deficit. The facial nerve was preserved in all patients except one, in whom a large intradural tumor caused a temporary facial palsy. In the patients with preoperative facial palsy, the tumor only compressed the nerve in three and it invaded the nerve in four. The nerve was decompressed in the cases with no invasion and a graft was placed in the others. The greater auricular nerve was used as a graft in three and the sural nerve was used in one. On follow-up review, the facial nerve function was House-Brackmann Grade 3 in three patients and Grade 2 in three. After 6 months of follow up with no improvement, one patient was referred for a facial muscle transfer. CONCLUSIONS: The surgical technique must be tailored to each case. The authors believe that the standard surgical approach to jugular foramen tumors with anterior transposition of the facial nerve should be avoided, and that the extent of surgical exposure must be tailored to each case based on the extent of the tumor and the clinical symptoms. Lower morbidity rates and radical removal can be achieved with a good surgical plan.

Adolescent↗
PubMed1990

[Preliminary study of motor evoked potential (MEP) on facial nerve palsy].

Motor evoked potential (MEP) examination is a new method. Ipsilateral facial muscles are excited by magnetic stimulation over the scalp when the coil is placed on the parieto-occipital region. Using magnetic stimulator and EMG instrument (1500C4 DISA), one can measure the CMAPs from orbicularis oris and frontal muscle. In 30 normal subjects, the CMAPs were found to be similar in form but of longer latency than those obtained with electrical stimulation (ENoG). In 20 patients with facial nerve paralysis due to Bell's palsy, Hunt's syndrome or trauma, the latencies on the affected sides were apparently longer and the amplitudes much lower than those in normal ones. Our studies imply that magnetic stimulation can be used to detect facial nerve in the region inside the temporal bone which is not accessible by electrical stimulation. Using ENoG and MEP methods, the proximal facial nerve conduction can be measured somewhat quantitatively, thus one can detect conduction block or axonal degeneration early. It is important not only for the diagnosis but also for the treatment and evaluation of prognosis.

Adult↗
PubMed1988

[On the contribution of magnets in sequelae of facial paralysis. Preliminary clinical study].

This trial was designed to evaluate the efficacy of EPOREC 1 500 magnets as an adjuvant to rehabilitation following peripheral facial paralysis. Magnetotherapy is used in many other specialties, and in particular in rheumatology. The properties of repulsion between identical poles were used to decrease the effect of sequelae in the form of contractures on the facial muscles. There were two groups of 20 patients: one group with physiotherapy only and the other with standard rehabilitation together with the use of magnets. These 40 patients had facial paralysis of various origins (trauma, excision of acoustic neuroma, Bell's palsy etc). Obviously all patients had an intact nerve. It was at the time of the development of contractures that magnets could be used in terms of evaluation of their efficacy of action on syncinesiae, contractures and spasticity. Magnets were worn at night for a mean period of six months and results were assessed in terms of disappearance of eye-mouth syncinesiae, and in terms of normality of facial tone. Improvement and total recovery without sequelae were obtained far more frequently in the group which wore magnets, encouraging us to continue along these lines.

Facial Paralysis↗
PubMedDate not supplied

Baiting the cross-face nerve graft with temporary hypoglossal hookup.

BACKGROUND: Cross-face nerve grafting yields inconsistent neural regeneration, and methods that promote more robust axonal traversing of the graft would expand the indications for this procedure. OBJECTIVE: To test the hypothesis that hooking a cross-face nerve graft distally to a source of denervated muscle, rather than leaving it in the subcutaneous space, would positively affect neural ingrowth across the graft, based on elaboration of neurotrophins from the musculature. METHODS: Twenty-four rats underwent cross-face nerve grafting in which the right facial nerve buccal branch was transected and coapted to the graft. The graft was placed across the neck and into the left side of the face. The distal end of the graft was placed either in the left subcutaneous space, coapted to the marginal mandibular branch of the left facial nerve, or coapted to the distal stump of the transected left hypoglossal nerve. Eight control animals underwent right buccal branch transection and placement of a cross-face nerve graft without any proximal and distal hookup. After 12 weeks, all experimental groups underwent hookup of the distal nerve graft to the left facial nerve buccal branch. Vibrissal function was assessed during the ensuing 12 weeks, and then the graft was harvested for histomorphometric analysis. RESULTS: After 12 weeks, there was a significant difference in axon counts between the group coapted distally to the tongue (hypoglossal hookup) and that coapted to the facial musculature (marginal hookup). Twelve weeks later, after distal cross-face nerve graft hookup, this difference was not statistically significant, although the hypoglossally baited group demonstrated statistically significantly greater fiber maturity. Recovery of vibrissal movement did not differ among treatment groups. CONCLUSION: Baiting the cross-face nerve graft via temporary hookup to the distal hypoglossal nerve and tongue musculature appears to improve nerve ingrowth through a nerve graft across the face, although a corresponding improvement in facial muscle function was not observed.

Animals↗
PubMedDate not supplied

Cosmetic uses of botulinum toxins for lower aspects of the face and neck.

The ability of botulinum toxin A (BTX-A) to improve the appearance of facial lines was first reported among patients who had been receiving injections for facial dystonias or surgical procedures. Since that time, there has been very extensive use of this treatment for relaxation of a wide variety of facial muscles and also for platysmal lines of the neck. Considerable experience over the last decade or longer confirms the safety and efficacy of BTX-A in the treatment of upper facial lines. BTX-A has been used also lower facial indications, but published papers are mainly uncontrolled observations on patients. Unlike the placebo-controlled studies on the upper face, there is a lack of controlled studies for lower face and neck BTX-A treatment. This article will summarize the use of BTX-A for the lower face and its role as combination treatment. Examples of combinations that may be used with BTX-A resurfacing, nonablative skin rejuvenation and skin fillers. Although little used at present, Botulinum Toxin B will be briefly discussed.

Botulinum Toxins, Type A↗
PubMed2005

Zebrafish as a model for caveolin-associated muscle disease; caveolin-3 is required for myofibril organization and muscle cell patterning.

Caveolae are an abundant feature of many animal cells. However, the exact function of caveolae remains unclear. We have used the zebrafish, Danio rerio, as a system to understand caveolae function focusing on the muscle-specific caveolar protein, caveolin-3 (Cav3). We have identified caveolin-1 (alpha and beta), caveolin-2 and Cav3 in the zebrafish. Zebrafish Cav3 has 72% identity to human CAV3, and the amino acids altered in human muscle diseases are conserved in the zebrafish protein. During embryonic development, cav3 expression is apparent by early segmentation stages in the first differentiating muscle precursors, the adaxial cells and slightly later in the notochord. cav3 expression appears in the somites during mid-segmentation stages and then later in the pectoral fins and facial muscles. Cav3 and caveolae are located along the entire sarcolemma of late stage embryonic muscle fibers, whereas beta-dystroglycan is restricted to the muscle fiber ends. Down-regulation of Cav3 expression causes gross muscle abnormalities and uncoordinated movement. Ultrastructural analysis of isolated muscle fibers reveals defects in myoblast fusion and disorganized myofibril and membrane systems. Expression of the zebrafish equivalent to a human muscular dystrophy mutant, CAV3P104L, causes severe disruption of muscle differentiation. In addition, knockdown of Cav3 resulted in a dramatic up-regulation of eng1a expression resulting in an increase in the number of muscle pioneer-like cells adjacent to the notochord. These studies provide new insights into the role of Cav3 in muscle development and demonstrate its requirement for correct intracellular organization and myoblast fusion.

Amino Acid Sequence↗
PubMed1989

Magnetically evoked facial nerve potential.

Facial nerve stimulation by electrical current is painful and tends to discourage serial studies. Transcutaneous magnetic stimulation of the facial nerve is painless, easily reproducible, and elicits facial muscle responses identical to electrical stimulation.

Electromyography↗
PubMed2006

From flawed self-assessment to blatant whoppers: the utility of voluntary and involuntary behavior in detecting deception.

Malingering occupies a range on a continuum from biased self-perception to conscious, deliberate, serious lies. One aspect of this continuum is the element of self-conscious or deliberate control. Suggestions from Darwin's writings concerning the role of voluntary and involuntary activation of the facial muscles are examined and illustrated with data from a 40 year program of research on deception. The impact of the voluntary-involuntary distinction on the appearance, timing, symmetry and cohesion of facial expressions of emotion is explained. Data relevant to changes in vocal and gestural aspects of demeanor in honest and deceptive behavior are also reviewed. The relevance of these laboratory-based findings on the voluntary control of nonverbal behavior in assessing some types of malingering is discussed.

Behavior↗
PubMed1985

Anaesthetic implications of nemaline rod myopathy.

Nemaline rod myopathy is an inherited congenital myopathy first described in 1963. Affected patients characteristically present in infancy with a non-progressive hypotonia and symmetrical muscle weakness. The disease affects all skeletal muscles including the diaphragm with sparing of cardiac and other muscle. Facial dysmorphism is common as are skeletal deformities, including kyphosis, scoliosis and pectus excavatum. We present two sisters with nemaline rod myopathy and their anaesthetic management for scoliosis surgery. Facial dysmorphism was a feature of both cases. Preoperatively, both patients demonstrated poor respiratory function on pulmonary function testing. Both cases were successfully managed using controlled ventilation and inhalational anaesthetic agents, avoiding muscle relaxants. Postoperatively, there were no respiratory complications. Although one case report describes the use of succinylcholine and pancuronium in a patient with nemaline rod myopathy, we feel that neuromuscular blocking agents should be avoided where possible and only used with careful monitoring.

Adolescent↗