Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004093 (asthenia)
 2,650 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A form of adult onset 'bulbospinal muscular atrophy' of X-linked recessive inheritance is described in 10 patients from eight families. Muscle weakness in the limbs was mainly proximal and developed in the third to fifth decades of life, often preceded by muscle cramps on exertion and tremor of the hands. Weakness and fasciculation of the facial muscles and tongue were prominent. All the patients had gynaecomastia and some were infertile. Two had diabetes mellitus. Motor nerve conduction studies were normal but most patients had small or unrecordable sensory action potentials in the absence of clinical sensory loss. Plasma creatine kinase levels were considerably elevated and muscle biopsies showed neurogenic atrophy together with secondary myopathic changes. The importance of recognising this distinctive disorder in single cases (six of the present series) is emphasised.
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PMID:X-linked recessive bulbospinal neuronopathy: a report of ten cases. 689 Sep 89

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.
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PMID:[A case of severe involvement of the motor neuron system accompanied with cerebellar ataxia]. 916 44

A 48-year-old man, who had spastic tetraplegia and a marked atrophy of the medulla oblongata and upper cervical cord, was reported. He began to walk in spastic fashion at the age of 12 years, and was diagnosed as spastic paraplegia. His father, whose onset of the disorder was 35 years old and died of pneumonia at the age of 69 years, manifested symptoms and a course, both resembling those of the present patient. Generalized weakness progressed gradually, and the patient was confined to bed in his forties. On admission, he showed markedly increased tendon reflexes and pathological reflexes in all the extremities. Muscular weakness was severe in the neck, trunk and extremities, and mild in the facial muscles. There were neither bulbar sign, significant respiratory failure nor fasciculation of muscles. A needle EMG examination revealed no apparent neuropathic findings. MR imaging showed a marked atrophy of the medulla oblongata and upper cervical cord, which was not considered to be secondary to vascular or infectious diseases. Though sensory evoked potentials showed no response at the latencies of central nervous components, visual evoked potentials, brainstem auditory evoked response and blink reflex were normal. This case might represent an unknown hereditary degenerative disease with autosomal dominant inheritance.
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PMID:[A case of spastic tetraplegia with medullo-cervical atrophy]. 950 78