Megacolon in Myotonic Dystrophy Caused by a Degenerative Neuropathy of the Myenteric Plexus

Yoshida, Mark M.; Krishnamurthy, Shoba; Wattchow, David; Furness, John B.; Schuffler, Michael D.

doi:10.1016/s0016-5085(88)80034-9

Cited by 58 publications

(23 citation statements)

References 13 publications

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“…Both conditions might be consequent to the lack of dystrophin, normally present in these two regions (De Stefano et al, 1997;Knuesel et al, 1999). Interestingly, dilated RER cisternae have also been found in some colonic myenteric neurons of a patient affected by myotonic dystrophy (Yoshida et al, 1988). These authors interpreted this finding as a sign of neurodegeneration and the presence of dilated cisternae also in mdx mice might have a similar significance.…”

Section: Discussionmentioning

confidence: 91%

“…Patients affected by DMD show gastrointestinal motility alterations (Barohn et al, 1988;Bensen et al, 1996) and, in a patient affected by myotonic dystrophy (Yoshida et al, 1988), degeneration and loss of colonic myenteric neurons have been found. Experimental findings in mdx mice, a strain lacking full-length dystrophin, have demonstrated an impairment of the gastric and colonic motor function and have addressed the possibility that this impairment depends on enteric neuron dysfunction (Mancinelli et al, 1995;Azzena and Mancinelli, 1999;Mulè et al, 1999;Baccari et al, 2000;Serio et al, 2001).…”

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confidence: 99%

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Synaptic vesicle morphology and recycling are altered in myenteric neurons of mice lacking dystrophin (mdx mice)

Vannucchi

Corsani

Faussone–Pellegrini

2003

Journal Cellular Physiology

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Several dystrophin isoforms are known. The full-length isoform is present in striated and smooth muscles and neurons and its lack causes Duchenne Muscular Dystrophy, a progressive myopathy accompanied by mild cognitive deficits and gastrointestinal dismotility. An ultrastructural study was undertaken in the colon of mice lacking full-length dystrophin and maintaining shorter isoforms (mdx mice) to ascertain whether myenteric neurons have an altered morphology. Results showed a significant increase in the size of synaptic vesicle and in the number of recycling vesicles. An enlargement of endoplasmic reticulum cisternae in a subpopulation of neurons was also seen. Immunohistochemistry confirmed that the shorter isoforms were expressed in mdx mice myenteric neurons. These findings indicate the presence of a neuropathy at the myenteric plexus which might justify the defective neuronal control of gastrointestinal motility reported for these animals and which might be correlated with full-length dystrophin loss, since the shorter isoforms are present.

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Section: Discussionmentioning

confidence: 91%

mentioning

confidence: 99%

Synaptic vesicle morphology and recycling are altered in myenteric neurons of mice lacking dystrophin (mdx mice)

Vannucchi

Corsani

Faussone–Pellegrini

2003

Journal Cellular Physiology

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“…There is also some doubt as to whether surgery is needed. Yoshida et al 14 conducted hemicolectomies in MD patients and histologically found normal smooth muscle but marked neurologic insults. The lack of conclusive evidence for surgical procedures that are irreversible demotes the intervention to be the last therapeutic option in our view.…”

Section: Figurementioning

confidence: 99%

The Use of Pyridostigmine in a Child With Chronic Intestinal Pseudo-Obstruction

et al. 2018

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Chronic intestinal pseudo-obstruction is a rare disorder that affects the motility of the gastrointestinal tract. It results in acute or subacute intestinal obstruction symptoms in the absence of mechanical lesion. It can lead to intestinal failure in children with significant strain on nutrition, growth, and development. There is no universally agreed protocol for management of chronic intestinal pseudo-obstruction in children, and there is wide variation in clinical practice.

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“…Até o sistema nervoso autônomo já foi referido como acometido 16 . Estudos patológicos do nervo periférico são escassos na literatura e, muitas vezes, divergentes 413 .…”

Section: Várias Evidências Clínicas E Eletrofisiológicas 712 De Pounclassified

Biópsia do nervo sural na distrofia muscular miotônica

Freitas

Nascimento

1996

Arq. Neuro-Psiquiatr.

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RESUMO -Foram estudados 12 pacientes com distrofia muscular miotônica com o objetivo de verificar o comprometimento do sistema nervoso periférico. Todos apresentavam os sinais e sintomas principais da doença. Nenhum tinha outras causas que pudessem justificar uma polineuropatia. Todos foram submetidos a biópsia do nervo sural com contagem de fibras mielínicas e realização de histograma. Dois não apresentavam histograma bimodal. Os pacientes mostraram redução do número de fibras mielínicas. Concluímos que a polineuropatia pode fazer parte do quadro clínico polimorfo da distrofia muscular miotônica.PALAVRAS-CHAVE: distrofia muscular miotônica, sistema nervoso periférico, polineuropatia, nervo sural, biópsia. Sural nerve biopsy in myotonic dystrophyABSTRACT -Twelve patients with myotonic dystrophy were studied to look for the involvement of the peripheral nervous system in this disease. All of them showed the main signs and symptoms of the disease. They did not have another causes to justify a polineuropathy. They were submitted to sural nerve biopsy with counting of myelinated fibers and histogram. Patients showed a reduction in the number of myelinated fibers and in two patients the histogram was unimodal. We concluded that polineuropathy may be another multisystemic manifestation of myotonic dystrophy.KEY WORDS: myotonic dystrophy, peripheral nervous system, polineuropathy, sural nerve, biopsy. Distrofias musculares são definidas classicamente como doenças dos músculos esqueléticos degenerativas, progressivas e hereditárias1 . A distrofia muscular miotônica (DMM) é a miopatia degenerativa mais comum em adultos. Apresenta incidência de 13,5 por 100000 indivíduos nascidos vivos e prevalência entre 2,4 e 5,5 por 100000 habitantes 9 . Foi descrita pela primeira vez em 1909 por Steinert e, no mesmo ano, por Batten e Gibb (apud Adams e Victor'). É doença transmitida de modo autossômico dominante e afeta vários sistemas e órgãos. Caracteriza-se por miotonia, fraqueza muscular, amiotrofia e numerosas manifestações não musculares, como calvície frontal, catarata, atrofia testicular, anormalidades da condução cardíaca, insuficiência respiratória, distúrbios do aparelho gastrointestinal e hipersonia. A atrofia tem predileção por certos grupos musculares: face, pescoço e extremidades dos membros. Tal predileção confere à facies um aspecto magro, alongado, inexpressivo com ptose palpebral bilateral e boca entreaberta: facies "em machadinha". A miotonia (incapacidade de relaxamento muscular imediato) é melhor demonstrada na mão e língua, e diminui com a progressão da doença. Recentemente foi descoberto que na DMM há repetição anormal de

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Megacolon in Myotonic Dystrophy Caused by a Degenerative Neuropathy of the Myenteric Plexus

Cited by 58 publications

References 13 publications

Synaptic vesicle morphology and recycling are altered in myenteric neurons of mice lacking dystrophin (mdx mice)

Synaptic vesicle morphology and recycling are altered in myenteric neurons of mice lacking dystrophin (mdx mice)

The Use of Pyridostigmine in a Child With Chronic Intestinal Pseudo-Obstruction

Biópsia do nervo sural na distrofia muscular miotônica

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