1/96. Delayed focal involvement of upper motor neurons in the Madras pattern of motor neuron disease.We report the case of a young man from the south of india, initially presenting the typical signs of benign monomelic amyotrophy (BMA) in the left upper limb. After several years, the involvement of other limbs and the appearance of bulbar signs suggested the possible diagnosis of the Madras pattern of motor neuron disease (MMND). Serial motor evoked potential (MEP) recordings allowed detection of the onset of a focal involvement of upper motor neurons (UMN) controlling innervation in the originally amyotrophic limb. Therefore, serial MEP recordings can be useful for the early detection of sub-clinical UMN damage in motor neuron disease presenting with pure lower motor neuron (LMN) signs.- - - - - - - - - - ranking = 1keywords = limb (Clic here for more details about this article) |
2/96. A reversible cause of hypercapnic respiratory failure: lower motor neuronopathy associated with renal cell carcinoma.We describe a unique case of a patient with a reversible paraneoplastic motor neuronopathy who presented with hypercapnic respiratory failure. The patient developed progressive respiratory and limb muscle weakness until treated with removal of a renal cell carcinoma, which was followed by a complete resolution of neuromuscular symptoms. The literature of paraneoplastic motor neuronopathies is reviewed, specifically in reference to respiratory failure.- - - - - - - - - - ranking = 1.280692418146keywords = muscle, limb (Clic here for more details about this article) |
3/96. motor neuron disease-inclusion dementia presenting as cortical-basal ganglionic degeneration.The frontotemporal dementias are a group of relatively new and evolving clinical and pathologic entities. The predominant frontal-temporal atrophy causes a variety of clinical syndromes, usually dominated by disturbances in behavior, mood, and speech. The motor neuron disease-inclusion dementia (MNDID) subtype is characterized by the accumulation of specific intraneuronal ubiquitin-immunoreactive inclusions with the complete absence of tau immunoreactivity. We present a patient with the clinical and neuroimaging characteristics of a highly asymmetric neurodegenerative condition distinguished by limb rigidity, bradykinesia, dystonia with an alien limb phenomenon, cortical sensory findings, and limb apraxia. His premorbid diagnosis was cortical-basal ganglionic degeneration but he had the typical histologic features of a frontotemporal dementia of the MNDID subtype.- - - - - - - - - - ranking = 1keywords = limb (Clic here for more details about this article) |
4/96. Troyer syndrome: a combination of central brain abnormality and motor neuron disease?Hereditary spastic paraplegia is a group of clinically and genetically heterogeneous disorders consisting of pure and complicated forms. A variant with the additional features of severe atrophy of the small hand muscles, dysarthria, mental retardation, and short stature has been termed Troyer syndrome (MIM#275900) after the name of Old Order amish families suffering from these symptoms. We report here an Austrian family with two individuals who exhibit all the features of Troyer syndrome, and provide additional data on this disorder. Electrophysiological studies showed chronic denervation and reduced motor nerve conduction velocities but normal sensory potentials. Muscle biopsy revealed a neurogenic pattern while the sural nerve was normal on histological examination. Brain abnormalities on magnetic resonance imaging consisted of a thin corpus callosum with a poorly developed cingulate gyrus and mild periventricular signal hyperintensities. These findings characterize the Troyer syndrome as a disorder of the first and second motor neuron with additional damage in the brain. The morphological features observed in this family may contribute to the grouping and subsequent understanding of complicated forms of hereditary spastic paraplegia, together with similar observations in other, more recently reported families.- - - - - - - - - - ranking = 0.94735908481262keywords = muscle (Clic here for more details about this article) |
5/96. Immunoadsorption in multifocal motor neuropathy.To our knowledge, this is the first reported application of immunoadsorption in a patient with multifocal motor neuropathy (MMN). The diagnosis relied on the typical clinical features, markedly increased IgM-GM1 antibodies, multiple motor conduction blocks, and motor nerve biopsy. Immunoadsorption was carried out in seven cycles of two sessions each within 97 days. From the first therapy, muscle force as well as nerve conduction velocity and conduction blocks deteriorated continuously. As a consequence, immunoadsorption cannot be recommended as a treatment for MMN.- - - - - - - - - - ranking = 0.94735908481262keywords = muscle (Clic here for more details about this article) |
6/96. Rapidly progressive aphasia and motor neuron disease: a clinical, radiological, and pathological study of an autopsy case with circumscribed lobar atrophy.This report concerns an autopsy case of rapidly progressive aphasia and motor neuron disease. The patient was a Japanese woman who was 75 years old at the time of death. The family history did not reveal hereditary burden. She developed language disturbances and difficulty in swallowing at age 74. Neurological examination 1 month after the disease onset revealed motor aphasia without dementia and bulbar sign, followed by muscle weakness of the four extremities. Neuroradiological examination revealed progressive atrophy of the anterior part of the left temporal lobe. She died of respiratory difficulty 10 months after the disease onset. Macroscopically, neuropathological examination showed circumscribed atrophy of the left perisylvian region and, histologically, neuronal loss in the cerebral cortex, including the primary motor area, substantia nigra, brain stem motor nuclei, and anterior horns of the spinal cord, in addition to obvious degeneration of the pyramidal tracts and presence of Bunina bodies. ubiquitin-immunoreactive neuronal inclusions were present in the hippocampal dentate granular cells and frontotemporal cortical layer II neurons. Based on these clinicopathological findings and a review of the literature, we concluded that our case is the first reported case of amyotrophic lateral sclerosis with dementia that clinically showed rapidly progressive aphasia.- - - - - - - - - - ranking = 0.94735908481262keywords = muscle (Clic here for more details about this article) |
7/96. Mitochondrial tRNA(Cys) mutation A5823G in a patient with motor neuron disease and temporal lobe epilepsy.We discovered a new homoplasmic mutation in the mitochondrial cysteine tRNA of a 60-year-old Caucasian male suffering from asymmetrical pure lower motor neuron disease (MND) and temporal lobe epilepsy (TLE). Furthermore, titrations with Amytal, an inhibitor of NADH:CoQ oxidoreductase, revealed mild mitochondrial dysfunction in skeletal muscle tissue, which was described in patients with MND in an earlier report. The mutation was undetectable in 155 Caucasian controls of both sexes, in 40 MND patients and in 13 individuals suffering from TLE. It was, however, detected in a heteroplasmic state in the patient's mother, who did not suffer from a neurological disorder. Since this rare mutation affected a nonconserved base position and was not observed in MND or TLE materials, its relation to disease remains unclear.- - - - - - - - - - ranking = 0.94735908481262keywords = muscle (Clic here for more details about this article) |
8/96. Giant intraspinal pseudomeningoceles cause delayed neurological dysfunction after brachial plexus injury: report of three cases.OBJECTIVE AND IMPORTANCE: Delayed neurological dysfunction after a brachial plexus injury is uncommon. We present the cases of three patients with a history of significant brachial plexus trauma and late neurological deterioration secondary to giant intraspinal extradural pseudomeningoceles. CLINICAL PRESENTATION: Three patients, each with a remote history of brachial plexus trauma, presented with slowly progressive upper-limb weakness. An examination revealed bilateral lower motor neuron weakness in the upper extremities in all patients and evidence of spastic paraparesis in one. magnetic resonance imaging and postmyelogram computed tomographic scans demonstrated large anterior extradural cerebrospinal fluid collections extending from the upper cervical to lower thoracic and lumbar levels in each patient. Myelograms demonstrated a connection with the subarachnoid space in two patients. INTERVENTION: Direct obliteration of the connection between the cyst and the subarachnoid space was completed in two patients, and a cystoperitoneal shunt was placed in the third. Postoperative imaging demonstrated complete resolution of the extradural collections. Arrest of progression of upper-limb deterioration was observed in all patients, and dramatic improvement of long tract symptoms occurred in one. CONCLUSION: Giant intraspinal pseudomeningoceles are a rare complication of brachial plexus root injuries or avulsion, capable of causing significant morbidity. Early intervention can improve symptoms related to long tract involvement and prevent further deterioration of lower motor neuron disease. The pathophysiology of neurological dysfunction caused by these giant collections is unclear; however, vascular and mechanical factors thought to be important in the pathogenesis of cervical myelopathy also may have a role.- - - - - - - - - - ranking = 0.66666666666667keywords = limb (Clic here for more details about this article) |
9/96. Lower motor neuron disease associated with myelofibrosis.We present a patient who has signs pointing to the involvement of lower motor neurons and myelofibrosis. To our knowledge, unlike lymphoproliferative disorders, co-occurrence of myelofibrosis and lower motor neuron disease (MND) has not been reported so far. A 64-year-old male patient was admitted to our hospital with the complaint of painful cramps in his neck and forearms. On physical examination marked hepatomegaly and splenomegaly were found. On neurologic examination nasal quality of the voice and slight palatal weakness were detected. There were generalised slight weakness and atrophy in both proximal and distal muscle groups. Fasciculations were observed especially in forearm muscles and it was observed that he had been avoiding head movements because of painful muscle cramps. Deep tendon reflexes were hypoactive. Nerve conduction studies were normal. By needle electromyography, giant motor unit action potentials (amplitudes up to 8 mV), fibrillation potentials, positive sharp waves and fasciculation potentials were detected in all muscles which were investigated. A hypercellular bone marrow (100%) was determined by bone marrow biopsy. In addition to increased production of the myeloid and megakaryocytic lines, abnormal aggregation and grouping of megakaryocytes were seen. Reticular fibers were increased. He had some benefit of dyphenilhydantoin treatment given for the painful cramps in his neck and forearm muscles. hydroxyurea treatment was started for myelofibrosis. Six months later, his general condition was better, and the painful cramps were completely resolved. No marked deterioration has been detected in neurologic examination and electromyography for 1 year.- - - - - - - - - - ranking = 531.49360539645keywords = cramp, muscle (Clic here for more details about this article) |
10/96. Activity-dependent conduction block in multifocal motor neuropathy.patients with multifocal motor neuropathy may complain of muscle fatigue, even though the degree of conduction block assessed at rest has improved with treatment. To explore the mechanism involved, we examined changes in muscle force during maximum voluntary contraction (MVC) and monitored conduction block before and after MVC in five patients with multifocal motor neuropathy. The results were compared with those for the contralateral unaffected homonymous muscles. For one patient, who had bilateral involvement, a normal subject of a similar age and stature served as the control. Results of conduction studies were also compared with those from six patients with amyotrophic lateral sclerosis (ALS) with similar compound muscle action potential (CMAP) amplitudes after proximal stimulation. During MVC for 60 s, the affected muscles developed prominent fatigue; the force at the end of contraction compared with the initial force was significantly lower for the affected muscles [42 /- 19% (mean /- standard deviation) of the initial force] than for the control muscles (94 /- 9%; P = 0.01). After MVC, the amplitude ratio of CMAPs after proximal versus distal nerve stimulation transiently decreased to 19 /- 14% of that before MVC in the affected muscles, but not in the control muscles (94 /- 3.8% of that before MVC) and in patients with ALS (95 /- 6.7%). In one patient with a focal lesion in the forearm, nerve excitability was monitored at the lesion site before and after MVC for 120 s. There were significant increases in axonal threshold (approximately 48%) and supernormality (approximately 135%) immediately after MVC, suggesting that the axonal membrane had undergone hyperpolarization and, by extrapolation, that this had precipitated the conduction block. This study is the first to show that activity-dependent conduction block plays a role in human disease by causing muscle fatigue.- - - - - - - - - - ranking = 9.4735908481262keywords = muscle (Clic here for more details about this article) |
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