1/73. Sporadic amyotrophic lateral sclerosis of long duration mimicking spinal progressive muscular atrophy: a clinicopathological study.We report an autopsy case of amyotrophic lateral sclerosis (ALS) clinically diagnosed as spinal progressive muscular atrophy (SPMA). The patient was a Japanese woman without hereditary burden. She developed muscle weakness of the distal part of the left lower extremity at age 42, followed by muscle weakness and atrophy of the right lower extremity and upper extremities. At age 57, she needed transient ventilatory support. Slight weakness in the facial muscles and fasciculation of the tongue appeared at age 60. At age 61, she died of sudden respiratory arrest. During the clinical course, neurological examination revealed neither Babinski signs nor hyperreflexia. The neuropathological examination revealed not only neuronal loss with gliosis in the facial nucleus, hypoglossal nucleus, and anterior horns of the spinal cord, but also loss of Betz cells and degeneration of the pyramidal tracts. Based on these clinicopathological findings and review of literature, we conclude that sporadic ALS mimicking SPMA is present.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
2/73. Complex repetitive discharges: cause or effect of neurogenic muscle hypertrophy?We report a patient with adult-onset spinal muscular atrophy (SMA) of the scapulohumeral type with neurogenic muscle hypertrophy (NMH) in markedly weakened biceps muscles in association with continuous complex repetitive discharges (CRDs). This is an apparently unique case due to the bilaterality of the NMH associated with CRDs as well as the well-circumscribed symmetric upper extremity distribution of the hypertrophy. The possible mechanisms of NMH in association with spontaneous motor activity are discussed.- - - - - - - - - - ranking = 2keywords = muscle (Clic here for more details about this article) |
3/73. Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy.X-linked bulbospinal neuronopathy (XLBSN) or Kennedys disease is a rare inherited neuromuscular disease characterized by adult-onset muscle weakness, usually in a limb-girdle distribution. It is frequently misdiagnosed despite a distinctive clinical presentation, usually due to the absence of a clear family history, and perhaps also due to failure of recognition. Accurate diagnosis is crucial for genetic counseling purposes and because alternative diagnoses usually carry a poorer prognosis. We evaluated 4 patients with XLBSN and one symptomatic female heterozygote patient. Based on our clinical observations in these patients and a systematic review of previously reported cases, the following clinical and electrophysiologic features when present in the setting of adult-onset muscle weakness, are strongly suggestive of the disorder: 1) facial weakness, 2) facial twitching or fasciculations, 3) tongue weakness and atrophy, 4) postural hand tremor, 5) hypo- or areflexia, and 6) absent or low-amplitude sensory nerve action potentials despite clinically normal sensation. We also hypothesize regarding the possibility of partial expression of the abnormal XLBSN gene in a symptomatic heterozygote female patient.- - - - - - - - - - ranking = 0.66666666666667keywords = muscle (Clic here for more details about this article) |
4/73. Deletions in the spinal muscular atrophy gene region in a newborn with neuropathy and extreme generalized muscular weakness.A newborn presented with respiratory insufficiency requiring artificial ventilation, inability to swallow, lack of spontaneous movements including the facial muscles, and areflexia. Nerve conduction velocities were not recordable. Molecular analysis showed a homozygous deletion in the spinal muscular atrophy (SMN) gene region on chromosome 5q. Pathological and neuropathological examination revealed a normal number of anterior horn cells, hypomyelinated axons in peripheral nerves and some atrophy of skeletal muscle fibres in combination with sarcoplasmic glycogen accumulation. This observation illustrates that severe congenital neuropathy can result from deletions in the SMN gene.- - - - - - - - - - ranking = 0.66666666666667keywords = muscle (Clic here for more details about this article) |
5/73. Diaphragmatic spinal muscular atrophy with bulbar weakness.We present the clinical and histopathological features of a child affected by diaphragmatic spinal muscular atrophy. The child was born with mild distal arthrogryposis, mild hypotonia and developed marked diaphragmatic and bulbar muscle weakness in the first week of life. Electrophysiological and pathological investigations performed at presentation were not conclusive, while the investigations performed at 3 months showed a clear neurogenic picture. Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that this syndrome represents a different entity from typical proximal spinal muscular atrophy.- - - - - - - - - - ranking = 0.33333333333333keywords = muscle (Clic here for more details about this article) |
6/73. Baastrup's disease correlating with diffuse lumbar paraspinal atrophy: a case report.Baastrup's disease ("kissing spine") is an x-ray finding that has been considered a possible cause of low back pain (LBP) since the 1930s. Its etiology is unknown, and there are no reports of muscle or soft tissue changes associated with it. This case report concerns a 57-year-old man with chronic LBP, stiffness, and indurated skin over the back. He had classic sclerotic changes between the spinous processes on x-ray, which is consistent with Baastrup's disease. Computed tomography (CT) and electromyography were performed. CT showed profound fatty replacement of the paraspinal musculature. An electromyography report showed severe isolated paraspinal denervation. This case suggests that diffuse fatty replacement of the paraspinal muscles, perhaps due to a compartment syndrome or other vascular event, may have a role in the pathogenesis of Baastrup's disease.- - - - - - - - - - ranking = 0.66666666666667keywords = muscle (Clic here for more details about this article) |
7/73. Monomelic amyotrophy with late progression.Monomelic amyotrophy is a sporadic juvenile-onset disease that presents with gradual onset of weakness and atrophy in the hand muscles unilaterally. Generally, this disease is considered a 'benign' and non-progressive motor neuron disease, which stabilizes within five years of onset. We discuss a case that illustrates that monomelic amyotrophy may rarely exhibit late clinical progression to the lower extremities after a prolonged period of disease stability.- - - - - - - - - - ranking = 0.33333333333333keywords = muscle (Clic here for more details about this article) |
8/73. amyotrophic lateral sclerosis associated with insomnia and the aggravation of sleep-disordered breathing.A case of amyotrophic lateral sclerosis (ALS) diagnosed by sleep-disordered breathing is described. The patient's chief complaints were insomnia and nocturnal dyspnea after taking a hypnotic drug. On examination, he showed restrictive ventilatory impairment, alveolar hypoventilation and hypoxia. Polysomnographic examination revealed marked hypoxia during REM sleep periods, decreased duration of REM sleep periods, and increased sleep disruption. amyotrophic lateral sclerosis was diagnosed by the neurological finding of paraspinal muscle weakness and neurogenic changes revealed by needle electromyography and muscle biopsy. The daytime and nocturnal respiratory insufficiency improved after nasal bilevel positive airway pressure therapy. amyotrophic lateral sclerosis should be suspected as a cause of insomnia and nocturnal dyspnea.- - - - - - - - - - ranking = 0.66666666666667keywords = muscle (Clic here for more details about this article) |
9/73. SMN2-deletion in childhood-onset spinal muscular atrophy.The human genome has two homologous survival motor neuron genes, SMN1 and SMN2. Although deletions of SMN1 are frequently reported in childhood-onset spinal muscular atrophy (SMA), SMN2 have been found to be intact in patients with the disorder. We report on a 5-year-old boy with childhood-onset SMA who has a homozygous deletion of SMN2. He had wasting, weakness, and hyporeflexia, predominantly in the distal muscles. The muscles involved showed chronic neurogenic changes on electromyogram. There was no sensory involvement. A nerve conduction study showed near normal conduction velocity with reduction in the amplitude of the compound muscle action potential. Analysis of polymerase chain reaction-restriction fragment length polymorphism as well as single-strand conformation polymorphism on exons 7 and 8 of the SMN genes revealed the SMN2-deletion. Base sequencing and densitometric analysis of the critical region (exon 7) did not show any microdeletion or duplication of SMN1, but confirmed the deletion of SMN2. We conclude that a deletion of SMN2 may also result in the SMA phenotype.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
10/73. Use of rapacuronium in a child with spinal muscular atrophy.We report the case of an 18-month-old girl with spinal muscular atrophy (SMA) that received 1 mg x kg(-1) rapacuronium for laryngospasm during induction of anaesthesia. Within 15 min, we observed some diaphragmatic recovery and, after emergence from anaesthesia, the child demonstrated adequate respiratory efforts. However, the child showed diminished strength of the upper extremity muscles. Since the preoperative workup had revealed bulbar symptoms and laryngeal function could not be easily assessed, the patient was kept intubated until upper extremity strength had returned to preoperative levels. Small doses of midazolam had been given to reduce the patient's anxiety but the patient was extubated within 5 h without any complications. Train of four (TOF) monitoring of the right adductor pollicis muscle, performed during anaesthetic recovery, was equivocal. In SMA, muscle groups are differentially affected so that TOF responses may be inconclusive and not reflect the state of the upper airway muscles. To our knowledge, this is the first report of use of a nondepolarizing neuromuscular blocking agent in a child with SMA.- - - - - - - - - - ranking = 1.3333333333333keywords = muscle (Clic here for more details about this article) |
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