Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present a case of progressive bulbar paresis in a 2-year-old child, with appropriate autopsy findings. A review of previously reported cases and a comparison with more extensive literature in Werdnig-Hoffmann disease suggest that Fazio-Londe disease is not unique, but belongs in the spectrum of progressive lower motor neuron disease.
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PMID:Progressive bulbar paresis in childhood. 124 98

The case of a progressive bulbar paresis in a nine and a half year old child is reported. The first symptoms were present at birth; however, the subsequent evolution was very low. Lesion of the motor nuclei of the V, VII, IX, XII, cranial nerves was evident on electromyographic investigation. Damage to the acoustic brain stem pathway was documented by the brain stem evoked potentials although audiometry was normal. No other neuronal systems or districts appeared to be damaged. The case suggests Fazio-Londe disease, although the involvement (albeit partial) of the auditory pathways recalls Van Laere syndrome. This supports the view that motor neuron disease in infancy is not an autonomous entity but a variant in a wide spectrum of progressive neuronal diseases.
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PMID:Progressive bulbar paralysis in childhood: a case report. 686 38

Hexosaminidase deficiency diseases or GM2-gangliosidoses were originally described as infantile encephalopathies. Recently, hexosaminidase deficiencies have been found with different phenotypes, including juvenile and adult encephalopathies, cerebellar ataxias, and motor neuron diseases. Individual cases have resembled Ramsey-Hunt syndrome, olivopontocerebellar ataxia, Friedreich ataxia, amyotrophic lateral sclerosis, Kugelberg-Welander disease, Fazio-Londe disease, and Charcot-Marie-Tooth disease. Tremor, dystonia, spastic paresis, and psychosis have been seen. Since few diagnosable causes for these system atrophies are known, these patients should be tested for hexosaminidase deficiency. These recessive disorders fit a multiple loci/multiple alleles genetic scheme, and a clinical genetic classification is presented.
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PMID:The clinical spectrum of hexosaminidase deficiency diseases. 719 92