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PubMed1976

Weakness associated with the pathological presence of lipid in skeletal muscle: a detailed study of a patient with carnitine deficiencey.

A patient with muscular weakness demonstrating pathological lipid accumulation and abnormal mitochondria in skeletal muscle has been studied. The lipid accumulation and mitochondrial changes are thought to be related to the established deficiency of carnitine in this patient's muscle. The symptoms of muscular weakness associated with lipid accumulation in the skeletal muscle in the absence of complaint of muscle cramps or myglobinuria are thought to be diagnostic of carnitine deficiency. The failure of the sarcoplasmic reticulum to accumulate Ca2+ is discussed. The patient's strength responded dramatically when propranolol was added to his steroid therapy.

Adult↗
PubMedDate not supplied

[A case of cervical myeloradiculopathy with positive serum anti-GT1a antibody].

A 19-year-old man with cervical myeloradiculopathy is reported. He was admitted to our hospital because of acute muscle weakness of upper limbs, which developed two weeks after respiratory tract infection. Neurologic examination revealed prominent muscular weakness of upper limbs. Deep tendon reflexes showed hyporeflexia in upper limbs and hyperreflexia in lower limbs. Serum IgG anti-GT1a antibody was detected by thin-layer chromatography and immunoblotting. Neck MRI revealed T2-weighted high intensity legions and swelling in spinal cord at third to sixth cervical segment. The muscular weakness and the cervical legion in MRI improved two weeks after steroid treatment. These findings indicate the involvement of cervical pyramidal tract as well as that of cervical roots in the patient. Neurological symptoms of the present case differed from those of pharyngeal-cervical-brachial variant (PCB) of Guillain-Barré syndrome, although serum anti-GT1a antibody was positive.

Adult↗
PubMed2003

[Distal myasthenia gravis: case report].

We report the case of a 30-year-old woman with a 7-year history of distal lower limbs weakness that evolved to upper limbs weakness. On neurological examination, she presented normal cranial nerves, bilateral quadriceps and feet interosseous atrophy, normal muscular tonus, muscular weakness more severe in dorsal feet interosseous and anterior tibial, and decreased deep tendon reflexes. Repetitive nerve stimulation of the ulnar and fibular nerves showed a decrement greater than 10% of the compound muscle action potential. Antibody against acetylcholine receptor titer was positive. Computed tomography scan of the thorax was normal. Thyroid function tests showed evidence of hyperthyroidism. Distal muscular weakness is a rare onset presentation of myasthenia gravis. However, myasthenia gravis must be considered in the differential diagnosis of distal limb weakness.

Adult↗
PubMed1995

[Phenotypic heterogeneity in Japanese Charcot-Marie-Tooth disease type 1A patients with PMP-22 gene duplication].

We studied phenotypic heterogeneity in 18 Japanese patients with Charcot-Marie-Tooth disease type 1A (CMT1A) with PMP-22 gene duplication, together with heterogeneity of duplication size. In order to detect the duplication of PMP-22 gene region, the PMP-22 cDNA and a polymorphic marker VAW409R3 were used as probes for Southern blot analysis. As the clinical phenotypes, we assessed the degree of foot deformity, muscular weakness and atrophy, tendon reflexes, sensory impairment and electrophysiologic and sural nerve biopsy findings. Although the degree of muscular weakness and atrophy was slightly more severe in the advanced age, there was a patient with calf hypertrophy in the older age or a patient with marked muscular atrophy of the leg in the younger age. The incidence of foot deformities and sensory impairment was high and these phenotypes did not relate to aging. Diminished or absent tendon reflexes and slowing of motor conduction velocities were commonly seen, but the motor conduction velocity varied greatly among the patients. The clinical phenotypes were extensively variable among the CMT 1A patients with the same gene mutation of PMP-22 gene duplication, suggesting that there is a factor other than PMP-22 gene duplication, which influences phenotypic manifestation in CMT 1A.

Adult↗
PubMed1987

Late effects of poliomyelitis.

Muscular atrophy and decreased functional abilities are recognized as late complications of poliomyelitis. This study sought to more clearly define late-onset, postpolio muscular weakness--age of onset, symptoms, and severity--and to determine whether people might benefit from environmental modification, respiratory aids, and orthoses. A total of 183 postpolio patients were examined by a physician and completed a questionnaire on their ambulatory status and related musculoskeletal and respiratory symptoms. Of those participating in the study, 154 claimed to be experiencing late deterioration in strength. The syndrome included decreased endurance, more limited ambulation, and increased weakness in the previously affected limb/s. For those describing late-onset weakness, average ages were determined for the onset of polio (8.3 years), the onset of postpolio muscular weakness (42.3 years), and the latent period of stable functioning (34.8 years). Patients claimed to have experienced a new, lower level of strength for an average of 4.7 years. All 33 patients who had undergone muscle transfer surgery were experiencing late-onset weakness in that extremity. Fasciculations (51%) and long-bone fractures secondary to falls (21%) were common sleep disturbances occurred frequently (31%) even in those without prior bulbar involvement. Upper motor neuron signs were present in only one case. Bracing was rare (16%) and the braces used were usually old. The subjects did not report a steadily or rapidly progressive decline, but rather described a steplike decrement with long plateaus. The population described losses in strength that had significant bearing on functional status and general health.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed2005

Novel method for recording vestibular evoked myogenic potential: minimally invasive recording on neck extensor muscles.

OBJECTIVES: Vestibular evoked myogenic potential (VEMP) has been used to test vestibulocollic reflex. However, VEMP is not stable on elderly patients because of their weak muscular strength. In this study, we tried to record VEMP on median neck extensor muscles with weak muscular contraction STUDY DESIGN: We recorded VEMP from normal subjects and patients by novel and conventional methods. METHOD: Thirty-one normal subjects and 56 patients with vertigo or hearing loss were tested in a seated or prone position without muscular tension. The different electrodes were placed on the median surface at the palpable bottom of the occipital bone. RESULTS: Our response showed a clear negative peak at 13 ms on normal subjects, with reversed polarity compared with VEMP on the sternocleidomastoid muscle. This potential is defined as VEMP caused by the proper latencies, dependency of the strength on sound stimulation, and independence of hearing ability. In the cases of acoustic neurinoma, onset latencies were prolonged or nonexistent. The responses on neck extensor muscles could not be recorded on some elderly patients. CONCLUSION: This new method of recording VEMP is less invasive and suitable for elderly patients.

Adolescent↗
PubMed1993

[Centronuclear myopathy].

A 19 year-old patient, second child of a non consanguinous marriage, was evaluated because of the patient progressive mental retardation and muscular weakness from infancy. Six maternal uncles non had died of unknown cause in the first year of life, and his mother had 3 spontaneous miscarriages; the two sisters of the patient were healthy. Clinical examination demonstrated a severe mental retardation, discrete proximal muscular weakness as well as universal areflexia. The muscular enzymes were elevated and the electrophysiologic study showed normal neurographic parameters and abundant generalized spontaneous activity with a mixed type contraction pattern. Histologic examination of the muscle was diagnosed as myopathy with atrophy of type I fibers and central nuclei and upon cranial nuclear magnetic resonance (NMR) images suggestive of perinatal hypoxic-ischemic encephalopathy were observed.

Adult↗
PubMed1992

[A case of chronic toluene poisoning with myopathic changes].

We reported a 27-year-old man, who had inhaled toluene vapor for 11 years and developed both polyneuropathy and myopathy. He gradually developed progressive muscular weakness in the limbs 2 months after the last inhalation and became nonambulant. Neurological examination revealed distal dominant muscular weakness and hypoactive deep tendon reflexes, especially in the legs. The cranial nerves were intact and neither sensory disturbances nor cerebellar signs were observed. Laboratory studies demonstrated mildly elevated serum CK value, but serum electrolytes and urinalysis were normal. Electromyogram showed a neurogenic pattern in the limbs and also a myogenic in the gastrocnemius muscle. Motor nerve conduction velocities were delayed in the limbs. The sural nerve biopsy specimens showed demyelination, myelin avoids, and axonal swelling compatible with toxic neuropathy. The muscle biopsy of the gastrocnemius revealed necrotic muscle fibers, vacuolated muscle fibers, phagocytosis, a disordered intermyofibrillary network, and small group atrophy on light microscopy. On electron microscopy, two outstanding findings were observed; the first, dilatation and proliferation of the membrane system, and the second, appearance of irregular membrano lamellar structures and vacuoles associated with abnormal membrane system. These histological findings suggest that toluene may affect directly the membrane system of muscle fibers and consequently induce rhabdomyolysis.

Adult↗
PubMed1999

Neurologic and otologic findings in Fisher's syndrome.

We performed neurologic and otologic examinations in 14 patients with Fisher's syndrome to determine whether its manifestations inducing acute ophthaloplegia, ataxia and areflexia may involve the auditory and vestibular systems. Tests included pure tone audiometry, auditory brainstem response, observations of nystagmus, smooth pursuit test, saccade test, optokinetic nystagmus test, and the caloric test. One patient showed downbeat nystagmus and lateral gaze nystagmus without restriction of eye movement, two patients showed dysmetria on saccades without restriction of eye movement, and three patients showed superimposed saccadic eye movement on smooth pursuit without lateral gaze nystagmus. The abnormalities in those six cases could not be explained by solely muscular weakness, but also appeared to involve the central oculomotor system. In the other patients, nystagmus could be explained by muscular weakness alone. Additionally, three patients, including two patients with dysmetria on saccades, showed a unilateral diminished response to caloric testing with no severe restriction of eye movements. In evaluating the auditory brainstem response of these three patients, one patient, who showed abnormality on the saccade and caloric tests, showed an elongation of wave I latencies and of wave I-III interpeak latencies at both ears, and one other patient showed an elongation of wave III-V interpeak latencies at both ears. This disorder may involve the peripheral and central auditory systems as well as the peripheral vestibular system.

Adolescent↗
PubMed1991

[Differential diagnosis of thyrotoxic myopathy].

To differentiate between thyrotoxic myopathy and myodystrophy (of the limb-girdle type), severe myasthenia, polymyositis, Addison's disease, proximal spinal muscular atrophy, steroid myopathy and neurosis special diagnostic indices have been developed based on specific muscular weakness (and atrophy) pattern early in the disease, the sequence of separate muscles involvement as the pathological process progresses, disproportion between muscular weakness and atrophy, excessive folds of the skin above the affected muscles and the presence of deep reflexes, purposeful analysis of the anamnesis. The diagnosis is confirmed by thyroid function study and/or myopathy regression in response to antithyroid therapy.

Adolescent↗
PubMed1993

Multicore myopathy--a case report.

Multicore myopathy is a rare congenital myopathy. The multicores consist of numerous small areas of decreased oxidative enzyme activity. The long axis of the lesion is perpendicular or parallel to the long axis of the muscle fiber. These cores are usually smaller than central cores. For this reason they are also called minicores. Although the multicores represent a nonspecific change in that they can be observed in malignant hyperthermia, muscular dystrophy, inflammatory myopathy, etc. Muscular weakness dating from early infancy is combined large proportion of the muscle fibers. In about half of the reported cases the muscular weakness has not been progressive, while in the others a slow progression has occurred. This 9-year-old boy presented with congenital nonprogressive myopathy associated with thoracic scoliosis and bilateral equinovarus deformity. The serum creatine phosphokinase and lactic dehydrogenase levels were normal. Electromyography showed "myopathic" features. The biopsy revealed a marked size variation in myofibers, ranging from 10 microns to 100 microns. A few small angular fibers and slight endomyseal fibrosis were also noted. There was type I fiber predominance. NADH-TR reaction disclosed more well-defined cores with loss of intermyofibrillary mitochondrial activity. These cores were usually located with loss of intermyofibrillary mitochondrial activity. These cores were usually located in the peripheral portions of the myofibers and the core size measured 10-30 microns in diameter. Electron microscopic examination revealed circumscribed areas of disintegrated Z band material and disorganized sarcomeric units near the sarcolemma. A decrease in the number of mitochondria and glycogen particles was noted.

Biopsy↗
PubMed2003

Ankylosing spondylitis and central core disease: case report.

Ankylosing spondylitis (AS) is an inflammatory disorder of unknown cause that primarily affects the axial skeleton. Neurological manifestations of AS are usually related to spinal deformities. Previous studies of the paraspinal muscles of AS patients showed muscle fiber atrophy, and core fibers. On the other hand, central core disease (CCD) is a genetic condition that primarily involves the skeletal muscles, but can present articular deformities secondary to muscular weakness. We report the case of a 45-year-old man with clinical and radiological diagnosis of AS and proximal muscular weakness in the lower limbs. Needle electromyography showed myopathic features and nerve conduction study was normal. Muscle biopsy disclosed almost complete predominance of type-1 fibers, and fibers with central cores. This is the first report of AS and CCD. Whether central core myopathy is coincidental or a new association with AS is discussed.

Biopsy↗
PubMedDate not supplied

Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype.

Speckled lentiginous nevus syndrome, a so far unrecognized cutaneous phenotype associated with neurological anomalies, is postulated on the basis of the following arguments. Phacomatosis pigmentokeratotica represents a twin spot phenomenon. One isolated half of this complex phenotype is observed rather often in the form of Schimmelpenning syndrome, whereas the other half of this twin nevus syndrome consists of a speckled lentiginous nevus associated with various neurological abnormalities incompatible with Schimmelpenning syndrome, such as hyperhidrosis, muscular weakness and dysesthesia. This second component of phacomatosis pigmentokeratotica may likewise occur separately. For the association of speckled lentiginous nevus with hyperhidrosis, muscular weakness, dysesthesia or other neurological abnormalities, the term "speckled lentiginous nevus syndrome" is proposed. Some case reports that may be categorized as examples of this new syndrome are reviewed. The postulated new phenotype is tentatively categorized as a paradominant trait. Future clinical studies will probably confirm the existence of speckled lentiginous nevus syndrome as a distinct neurocutaneous phenotype.

Cafe-au-Lait Spots↗
PubMed1991

[Autosomal recessive oculopharyngeal "muscular dystrophy"--clinical features and association with reduced activity of myophosphorylase].

We reported two cases of brothers demonstrating oculopharyngeal muscular dystrophy (OPMD). The cases had consanguineous parents and five healthy siblings, which suggested the autosomal recessive inheritance. The initial symptom was slowly progressive blepharoptosis with onset in the third decade. On examination, total external ophthalmoplegia was observed in both patients. Additionally, the elder, a 57-year-old man, exhibited dysarthria, dysphagia and muscular weakness with atrophy of the face, bilateral proximal upper limbs and diffuse lower limbs. The younger brother, a 55-year-old man, displayed muscular weakness and atrophy distributed in the face and four limbs. Muscle biopsy of both cases revealed rimmed vacuoles and spheroid bodies in the atrophic and normal-sized fibers. Biochemical study of the biopsy specimens of the elder brother disclosed the myophosphorylase activity reduced to about 40% of the normal value, although in the younger brother, that activity was normal. OPMD is usually inherited in the autosomal dominant mode, and autosomal recessive OPMD is rare. The onset age of our cases was younger than that of the autosomal dominant OPMD. There were some differences in the clinical manifestation between the presented cases, which could be interpreted as phenotypic variation. The elder brother was thought to be associated with McArdle's disease.

Blepharoptosis↗
PubMed1999

[An attack of malignant hyperthermia caused by a combination of the effects of succinylcholine, increased physical exertion and alcohol abuse].

The authors submit the case-history of a 29-year-old man, followed up on account of liver steatosis with a toxic-nutritional etiology who developed, after previous increased physical exertion and alcohol abuse, fever associated with major muscular weakness. Gradually he developed an amental delirious state which was evaluated as suspect delirium tremens. Fever of 40-41 degrees C continued, the patient developed muscular rigidity, tremor and hypotension. After intubation during which succinylcholine was administered, the patient's condition deteriorated further with a rise of temperature and muscular rigidity. The patient developed acute renal failure with anuria and the necessity of repeated haemodialyses and severe acidosis of the mixed type on account of which he was intubated and switched to artificial ventilation. According to the case-history clinical and laboratory picture of the disease (extremely high creatine kinase activity, hyperkalaemia, acidosis, hepatorenal failure) malignant hyperthermia was suspected. After a single intravenous injection of sodium dantrolene, 2.5 mg/kg, the temperature dropped and within 24 hours the patient was afebrile. Gradually the acidosis improved, the blood pressure became stabilized and artificial ventilation was no longer used. The patient was discharged after 34 days in hospital in a state of cardiopulmonary compensation with mild polyuria but without signs of retention of nitrogenous substances with sideropenic anaemia and marginal creatine kinase and lactate dehydrogenase values. Within one month after discharge the laboratory values reached normal levels and only slight muscular weakness and greater fatiguability persisted.

Adult↗
PubMed1995

The "campus syndrome" in pigs: neurological, neurophysiological, and neuropharmacological characterization of a new genetic animal model of high-frequency tremor.

Inherited neurological diseases in animals are of interest to a wide range of scientific disciplines, particularly because such animals may be suited as genetic animal models for respective human disorders. Because the pig has a number of anatomic and physiologic features similar to those of human beings, this species is becoming increasingly popular in biomedical research. The usefulness of pigs as genetic models of neurological diseases is illustrated by the porcine model of malignant hyperthermia (MH), i.e., a frequently fatal myopathic disease in both pigs and humans. In the present study, we describe a new hereditary movement disorder in Pietrain pigs, which may represent a useful genetic animal model of high-frequency tremor. Because the disorder was first detected in the offspring of a boar named "Campus," we use the term "Campus syndrome" in this respect. Segregation analysis of breeding studies indicates that the syndrome is inherited as a monogenic dominant trait. DNA-based testing of the mutation involved in MH myopathy showed that expression of the Campus syndrome in pigs is not dependent on homozygosity for the MH mutation. In affected pigs, the Campus syndrome develops at an average age of 27 days. The syndrome is characterized by muscular weakness and a very intense tremor of the legs when standing and walking but not when at rest in a lying position. The intensity of tremor and muscular weakness progressively increases with age, resulting in pronounced postural instability. Despite these neurological abnormalities, body weight gain in affected pigs does not differ from that in unaffected siblings.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1981

Factors affecting the susceptibility of different strains of mice to experimental myasthenia gravis.

Mice immunized with purified AChR (T. californica) invariably form anti-AChR antibodies and often develop a condition of extreme muscular weakness and flaccid paralysis. Pharmacological, physiological, and ultrastructural studies indicate that the pathophysiology of EMG in the mouse closely resembles that of human MG. The single episode of muscular weakness typically found in mouse EMG differs from the acute phase of rat EMG in that macrophages and other phagocytes do not appear to play an active role in the destruction of the neuromuscular junction. The frequency of paralysis in mice immunized with AChR is highly strain dependent and is not attributable to polymorphisms with respect to susceptibility to cholinergic blockade. The incidence of paralysis does not correlate with the magnitude of the humoral response to either T. californica or mouse AChR. Because both paralyzed and nonparalyzed mice form antibodies which are able to increase the rate of both junctional and extrajunctional AChR degradation, the mere presence of antibodies reactive with cell surface antigenic determinants of AChR is not sufficient for the induction of paralysis. While it is still possible that antibody-induced degradation of AChR may be necessary for the induction of paralysis, these studies rule out the possibility that antigenic modulation of AChR is sufficient to account for the induction of paralysis in mouse EMG. In the present studies alleles of the two loci were identified which significantly effect the probability with which mice immunized with AChR can be expected to become paralyzed, the MHC and the IgCH region. Because one genotype, H-2b, Ig-1b segregated with high susceptibility to EMG in four strains derived from three dissimilar backgrounds, these studies strongly suggest that susceptibility to the development of paralysis is a heritable trait determined by regions of the mouse genome which regulate immune responsiveness.

Animals↗
PubMed1997

[A case of severe involvement of the motor neuron system accompanied with cerebellar ataxia].

Here we report a sporadic case of severe involvement of the motor neuron system accompanied with cerebellar ataxia. A 55-year-old Japanese woman was admitted to our hospital because of unstable gait and clumsiness of hands. Since she had prominent ataxia, she was initially diagnosed as late onset cortical cerebellar atrophy (LCCA). However, mild muscular weakness and atrophy were pointed out. Weakness in extremities progressed slowly and she became unable to walk in two years. On the second admission, in addition to cerebellar ataxia, she had moderate to severe muscular weakness and atrophy with fasciculation in extremities. Although she had no sensory impairment, micturitional disturbance nor orthostatic hypotension, she had impaired skin sweating response. MRI imaging revealed moderate cerebellar and brain stem atrophy. Neurophysiological examination revealed upper and lower motor neuron damage. Beta-D-N acetylglucosaminidase activity was normal and SCA1, DRPLA and Machado-Joseph disease were excluded by DNA studies. Combination of motor neuron disease and cerebellar degeneration has been very rare. Only two cases similar to our case were reported before. Our patient had anti GM1-ganglioside antibody in her serum, suggesting that motor neuron disease and cerebellar degeneration may occur with the same pathophysiological mechanism.

Cerebellar Ataxia↗