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Correction of facial-skeletal deformities in two patients with facio-scapulo-humeral muscular dystrophy.

The genetic etiology, pathophysiology, natural progression, prognosis, and complications of Landouzy-Dejerine facio-scapulo-humeral benign muscular dystrophy are presented, as well as the risks of anesthesia and surgery. Patients with relatively benign myopathies may be candidates for reconstructive orthognathic surgery to improve oral function, facial esthetics, social interchange, and general quality of life. The surgery can be a gratifying experience for the patient, the family, and the surgeon, but the procedure, the anesthesia, and the postoperative care must be carefully planned to minimize the genuine risks.

Child↗

The facial nerve function coefficient: analysis of 100 normal subjects.

The Facial Nerve Function Index (FNFI) is a measure of asymmetrical facial movement and is a quick and easy method of monitoring the improvement of function in patients with facial nerve palsy. However, purely as a consequence of the way the index is formulated, and not primarily because of any tendency to biological asymmetry favoring one particular direction in the population, the FNFI has a highly skewed distribution. To remove the inherent asymmetry of the index, a modified index, the Facial Nerve Function Coefficient (FNFC), for which a symmetrical distribution is obtained, is proposed. A reference range for this index was derived.

Adolescent↗

Distribution of premotor neurons for orbicularis oculi motoneurons in the cat, with particular reference to possible pathways for blink reflex.

After injecting horseradish peroxidase into the facial nucleus regions containing orbicularis oculi motoneurons, labeled neuronal cell bodies were found in the lateral medullary reticular formation, pretectal olivary nucleus, sensory trigeminal nuclei, lateral and medial parabrachial nuclei, ventromedial reticular formation medial to the facial nucleus, red nucleus and its surroundings, anterior horn of the upper cervical cord, medullary raphe nuclei, oculomotor nucleus and its surroundings, nuclei of Darkschewitsch, Cajal and Edinger-Westphal, ventral part of the midbrain central gray, pontine tegmentum, lateral vestibular nucleus and deep layers of the superior colliculus.

Animals↗

Premotor neurons projecting simultaneously to two orofacial motor nuclei by sending their branched axons. A study with a fluorescent retrograde double-labeling technique in the rat.

Premotor neurons innervating simultaneously two of the trigeminal motor (Vm), facial (VII) and hypoglossal nuclei (XII) by sending their branched axons were demonstrated in the lower brain stem of the rat by means of a fluorescent retrograde double-labeling method with Fast Blue (FB) and Diamidino Yellow (DY). After injections of FB and DY, respectively, into the Vm and VII, into the Vm and XII, or into the VII and XII, the majority of neuronal cell bodies labeled doubly with FB and DY were distributed in the lateral tegmental field, especially its medial part in the medulla oblongata.

Amidines↗

Mechanisms regulating the activity of facial nucleus motoneurones--2. Synaptic activation from the caudal trigeminal nucleus.

Field and postsynaptic potentials of facial motoneurones evoked by stimulation of the caudal trigeminal nucleus were studied in cats by means of extra- and intracellular recording. Mono- and polysynaptic input onto facial motoneurones from the caudal trigeminal nucleus were shown. Four types of responses were distinguished: excitatory postsynaptic potentials generating a single action potential; a gradual shift of depolarization inducing multiple discharges; a rhythmic discharge of action potentials appearing at a low level of depolarization; excitatory postsynaptic potentials or a sequence of excitatory and inhibitory postsynaptic potentials. Multiple discharge was shown to appear as a result of effective summation of high frequency excitatory influences from efferent neurones of the caudal trigeminal nucleus projecting into the facial nucleus. Factors facilitating the development of gradual depolarization are: dendritic localization of synaptic terminals, dendritic origin of after-depolarizing processes and the high input resistance of the facial motoneurone membrane. It is thought that specific features of facial motoneurones and properties of afferent inputs are supposed to provide high sensitivity of neuronal organization of the facial nucleus to afferent signals as well as wide diversity in controlling its activity.

Animals↗

The substantia innominata complex and the peripeduncular nucleus in orofacial dyskinesia: a pharmacological and anatomical study in cats.

It has been shown that orofacial dyskinesia, i.e. a syndrome of abnormal involuntary movements of the facial muscles, can be elicited from the sub-commissural part of the globus pallidus and the adjoining dorsal parts of the extended amygdala in cats. Until now it is unknown whether the peripeduncular nucleus, which receives input from these structures according to anterograde tracing studies, plays a role in the funneling of orofacial dyskinesia to lower output stations. In the present study the connection of the subcommissural part of the globus pallidus and dorsal parts of the extended amygdala with the peripeduncular nucleus was investigated anatomically, using cholera toxin subunit B as a retrograde tracer, and functionally, using intracerebral injections of GABAergic compounds. The anatomical data show that the sub-commissural part of the globus pallidus and dorsal parts of the extended amygdala were marked by cholera toxin sub-unit B-immunoreactive cells following injections of this retrograde tracer into the peripeduncular nucleus. Thus, it could be confirmed that the peripeduncular nucleus receives input from the sub-commissural part of the globus pallidus and dorsal parts of the extended amygdala. Still, the orofacial dyskinesia elicited by local injections of the GABA antagonist picrotoxin (500 ng/0.5 microliters) into the sub-commissural part of the globus pallidus and dorsal extended amygdala was only in part attenuated by local injections of the GABA agonist muscimol (100 ng/l microliters) into the peripeduncular nucleus. Only the number of tongue protrusions was significantly attenuated, but not that of the ear and cheek movements. Furthermore, tongue protrusions, but no additional oral movements, were elicited by picrotoxin injections (375-500 ng) into the peripeduncular nucleus.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗

Movement disorders as a manifestation of nonketotic hyperglycemia.

Movement disorders are well-known presenting signs of metabolic disorders. Focal motor abnormalities may be the chief initial presentation of diabetes mellitus in the nonketotic hyperglycemic state in 6% of patients. Nonketotic hyperglycemia (NKH), in particular, may manifest any of a wide variety of movement disorders. These have been described as focal seizures, epilepsia partialis continua, myoclonus, and opsoclonia. There are descriptions of movement disorders in hyperglycemia that are similar to the coarse flapping tremor of asterixis, the posturing of paroxysmal kinetogenic choreoathetosis, and of "fencing (stance) seizures." Disorders of facial motor function including aphasia, facial muscle twitching and jerking, and disorders of muscular tone have been described. These may include hemiparesis and hemiplegias as well as increased tone, in some cases mimicking the nuchal rigidity of meningitis. The movement disorders in NKH may mimic cerebral vascular accidents, meningitis, or psychiatric disorders, as well as various types of seizures. Clinicians may be able to avoid expensive and time-consuming diagnostic evaluations to rule out NKH in patients with movement disorders. We present two patients with focal motor abnormalities associated with nonketonic hyperglycemia and review the pertinent literature.

Adult↗

Contralateral botulinum injections improve drinking ability and facial symmetry in patients with facial paralysis.

PURPOSE: To report two patients who experienced improved drinking ability as well as facial appearance with contralateral injection of botulinum toxin. DESIGN: Retrospective case reports. METHODS: Two patients were treated with botulinum toxin contralateral to the VIIth nerve palsy to improve drinking ability as well as facial asymmetry. RESULTS: Botulinum toxin injections improved facial asymmetry as well as drinking ability in two patients with facial nerve palsies. CONCLUSIONS: Contralateral botulinum toxin injections improved drinking ability in two patients with facial nerve palsy.

Adult↗

Physiotherapy in patients with facial nerve paresis: description of outcomes.

PURPOSE: The purpose of this study was to describe changes and stabilities of long-term sequelae of facial paresis in outpatients receiving mime therapy, a form of physiotherapy. MATERIAL AND METHODS: Archived data of 155 patients with peripheral facial nerve paresis were analyzed. Main outcome measures were (1) impairments: facial symmetry in rest and during movements and synkineses; (2) disabilities: eating, drinking, and speaking; and (3) quality of life. RESULTS: Symmetry at rest improved significantly; the average severity of the asymmetry in all movements decreased. The number of synkineses increased for 3 out of 8 movements; however, the group average severities decreased for 6 movements; substantially fewer patients reported disabilities in eating, drinking, and speaking; and quality of life improved significantly. CONCLUSION: During a period of approximately 3 months, significant changes in many aspects of facial functioning were observed, the relative position of patients remaining stable over time. Observed changes occurred while the patients participated in a program for facial rehabilitation (mime therapy), replicating the randomized controlled trial-proven benefits of mime therapy in a more varied sample of outpatients.

Adult↗

Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy.

We report here a case of a 20-year-old woman with facioscapulohumeral muscular dystrophy (FSHD). In this patient, the involvement of facial muscle had been present since early childhood, but obscured due to the complication of profound mental retardation. Epilepsy emerged at eight years of age. Symmetrical limb muscle weakness appeared at 15 years of age, which progressed such that she was wheelchair-bound at 18 years of age. An elevated serum creatine kinase, predominant involvement of hamstrings, scapular and abdominal muscles, as well as an impaired stapedial reflex at high tune, were compatible with the clinical features of FSHD. The diagnosis of 4q35-FSHD was confirmed by detection of a 10kb EcoRI fragment with a p13E-11 probe on a Southern blot. The intellectual disability in this patient was the most severe of all FSHD patients reported to date and has hindered a correct diagnosis. This entity should be included in the differential diagnoses for patients with muscular symptoms and accompanying mental retardation.

Adult↗

Cortical myoclonus due to hypocalcemia 12 years after thyroidectomy.

Although seizures have been described in hypocalcemia, myoclonus has been rarely reported. We report the first case of a patient with hypocalcemic cortical myoclonus due to hypoparathyroidism following a previous thyroidectomy. The patient was an 84-year-old woman who presented with multifocal myoclonus, which was predominant in the upper extremities, neck, jaw, and facial muscles. Electrophysiological studies revealed enlarged somatosensory evoked potentials, cortical reflexes evoked by peripheral nerve stimulation, and a cerebral potential preceding myoclonic jerks determined by jerk-locked averaging. All these findings were consistent with cortical myoclonus. The myoclonic state disappeared as serum calcium level became normal. Hypocalcemia should be considered in patients who had had a thyroidectomy, even if it was performed more than 10 years previously.

Aged↗

Respiratory failure in a patient with antecedent poliomyelitis: amyotrophic lateral sclerosis or post-polio syndrome?

We report a 69-year-old man who developed paralytic poliomyelitis in childhood and then decades later suffered from fatal respiratory failure. Six months before this event, he had progressive weight loss and shortness of breath. He had severe muscular atrophy of the entire right leg as a sequela of the paralytic poliomyelitis. He showed mild weakness of the facial muscle and tongue, dysarthria, and severe muscle atrophy from the neck to proximal upper extremities and trunk, but no obvious pyramidal signs. Electromyogram revealed neurogenic changes in the right leg, and in the paraspinal, sternocleidomastoid, and lingual muscles. There was a slight increase in central motor conduction time from the motor cortex to the lumbar anterior horn. Pulmonary function showed restrictive ventilation dysfunction, which was the eventual cause of death. Some neuropathological features were suggestive of amyotrophic lateral sclerosis (ALS), namely Bunina bodies. In patients with a history of paralytic poliomyelitis who present after a long stable period with advanced fatal respiratory failure, one may consider not only respiratory impairment from post-polio syndrome but also the onset of ALS.

Aged↗

The use of Botox to treat glabellar rhytids.

The goal of the article is to allow a physician to become more familiar with Botox as a treatment of glabellar wrinkles. An overview of the anatomy of that region is reviewed. Evaluation of the facial muscles before treatment and injection technique is also covered.

Botulinum Toxins, Type A↗

Effects of hypoglossal and facial nerve injuries on milk-suckling.

Functional roles of the perioral anatomical structures involved in breastfeeding were examined in newborn rat pups in which the hypoglossal (XII) and facial (VII) nerves had been resected at the neonatal stage. The XII nerve controls tongue movement and is comprised of two functionally distinct branches: the medial branch related to protrusion of the tongue and the lateral branch related to its retraction. Newborn rat pups with bilateral resection of either of the XII nerve components (main trunk: XII-trunk; medial branch: XII-med; lateral branch: XII-lat) failed to suckle milk and did not survive. Unilateral XII nerve-resected neonates showed different milk-suckling capabilities, which thus resulted in differences in survival rate (XII-trunk: 38%; XII-med: 24%; XII-lat: 92%) and postnatal growth during the postnatal 3 weeks until P21. Unilateral and bilateral resections of the VII nerve innervating the buccolabial musculature produced lowered suckling capabilities and retarded postnatal growth, although all pups showed 100% survival. The results indicate a crucial role of the tongue, especially of protruding muscular elements innervated by the XII-med nerve, in breastfeeding. The results also indicate differential effects of the VII and XII nerve components on suckling capability, survival, and postnatal growth of newborn rat pups.

Animals↗

Familial amyloid polyneuropathy (Finnish type) in a Japanese family: Clinical features and immunocytochemical studies.

Familial amyloid polyneuropathy (FAP: type IV), known as familial amyloidosis of the Finnish type (FAF), is very rare and reported only in a few countries. The gelsolin mutation G654A is most frequent causative gene in FAF family. The clinical phenotype of FAF possesses several neurological characteristics with multiple cranial nerve signs, in addition to a peculiar exanthema of "lichen amyloidosus" and pendulous skin "cutis laxa", and the carpal tunnel syndrome. We report a new Japanese FAF family presenting bilateral atrophies and fasciculations of the facial muscles and tongue. The patients in our family presented with skin changes as "lichen amyloidosus" and "cutis laxa". In this FAF family, lichen amyloidosus appeared under sunlight and high temperatures in the summer season every year. Two patients in our family presented with common clinical features of FAF, except for the above laboratory results. Including previous cases and our family, this clinical phenotype is similar to the gelsolin gene mutation (G654A) in FAF family members.

Amyloid Neuropathies, Familial↗

Changes in the expression of P2X1 and P2X2 purinergic receptors in facial motoneurons after nerve lesions in rodents and correlation with motoneuron degeneration.

Involvement of P2X1 and P2X2 purinergic receptors in motoneuron response to injury was investigated with Western blotting and immunohistochemistry and correlated with motoneuron loss, Bcl-2 expression, nitric oxide synthase induction and glial activation. P2X1 was highly induced in rat facial motoneurons after nerve resection, which causes slowly occurring neurodegeneration. P2X1 induction was lower and less persistent after nerve crush, permissive for fiber regeneration. P2X2 expression was found in nuclei of rat facial motoneurons, with nuclear export in the cytoplasm after nerve resection. P2X1 induction in axotomized facial motoneurons was impaired in superoxide dismutase (SOD)1-G93A-mutant mice, a model of motoneuron disease. The data in rats point to a correlation of P2X1 induction with motoneuron degeneration, which also involves P2X2 intracellular changes, rather than with axon regeneration effort. The data in mice show that the SOD1 mutation interferes with injury-elicited P2X1 induction, suggesting alterations of ATP release from mutant motoneurons after damage.

Animals↗

Magnetic resonance imaging of the visual system in vivo: transsynaptic illumination of V1 and V2 visual cortex.

Brain nuclei directly receiving retinal projections are readily labeled in magnetic resonance images following intraocular injection of manganese (Mn). To assess whether Mn in retinal ganglion cell axons can be transsynaptically delivered to visual cortex, mice that had previously received intraocular Mn injection were anesthetized with isoflurane, and T1-weighted data sets were acquired of the eyes and brain using a 7-T magnetic resonance imaging machine. Image intensity within contralateral brain structures was evaluated by assessing 1) signal-to-noise ratios, 2) mean image intensity, and 3) mean image intensity normalized to facial muscle intensity. Image intensity was increased throughout the visual pathway including within contralateral visual cortex areas V1 and V2L. Mean normalized image intensity was greater by 53% in the ipsilateral optic nerve and by 31% and 28% in the contralateral lateral geniculate nucleus and superior colliculus, respectively (N=5, P<0.02, paired t test). In contralateral visual cortex areas V1 and V2L, image intensity was increased by 7.5% and 6.8%, respectively (P<0.02 for both, paired t test). Power analysis of the different evaluation methods yielded evidence of superior sensitivity using the normalization method. Reconstruction of the visual system based upon threshold analysis allowed simultaneous visualization of all portions of the major retinal projections to the brain. These results support use of high magnetic field MRI imaging and data normalization for in vivo quantitative analysis of the mouse brain visual system including visual cortex.

Animals↗