Two Cases of Myotonia Atrophica, Showing a Peculiar Distribution of Muscular Atrophy

Batten, F. E.; Gibb, Heather

doi:10.1177/003591570900200708

Cited by 3 publications

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“…DM is an inherited muscular dystrophy characterized by progressive atrophy of voluntary muscles (Batten and Gibb, 1909). Two types of DM, DM1 and DM2, share the same toxic RNA gain-of-function mechanism but involve two different genes.…”

Section: Regulatory Rnas In Brainmentioning

confidence: 99%

Regulatory RNAs in brain function and disorders

2010

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Regulatory RNAs are being increasingly investigated in neurons, and important roles in brain function have been revealed. Regulatory RNAs are non-protein-coding RNAs (npcRNAs) that comprise a heterogeneous group of molecules, varying in size and mechanism of action. Regulatory RNAs often exert post-transcriptional control of gene expression, resulting in gene silencing or gene expression stimulation. Here, we review evidence that regulatory RNAs are implicated in neuronal development, differentiation, and plasticity. We will also discuss npcRNA dysregulation that may be involved in pathological states of the brain such as neurodevelopmental disorders, neurodegeneration, and epilepsy.

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Section: Regulatory Rnas In Brainmentioning

confidence: 99%

Regulatory RNAs in brain function and disorders

2010

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“…Few as the recorded cases are, they can leave no doubt on this point. In only three out of twenty cases were the patients women-viz., in Hoffmann's, Batten and Gibb's [2], and Kleist's [10] cases-and it is interesting that in two of these the symptoms were slight and had escaped observation till the presence of the affection in a more marked degree in other members of the family had directed attention to the condition. The symptoms make their appearance in early adult life ; in the majority of cases between the ages of 20 and 30.…”

Section: Summabt Of Clinical Symptomsmentioning

confidence: 99%

Myotonia Atrophica.

Batten¹,

Gibb²

1909

Brain

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THE object of this paper is to draw attention to a group of cases which present the rare association of muscular atrophy with a slow relaxation of muscles after voluntary contraction. The muscular atrophy has a distribution which is peculiar and corresponds to none of the wellknown types of myopathy. The characteristic features of the condition are weakness of the facial muscles (myopathic face), atrophy of the sterno-mastoids, atrophy of the vasti of the thighs and dorsiflexors of the feet, and a slow relaxation of certain muscles after contraction. The more forcible the contraction, the slower the relaxation. We are aware that variations from the type have been described both in the distribution of the muscular atrophy and in the occurrence of the slow relaxation without atrophy, but considering the striking resemblances of our own cases, and those which we have collected from the literature, we think the type is worthy of recognition. NAME. This condition has been described under various names: Myotonia with muscular atrophy (Lannois). Muscular atrophy with the electrical reactions of Thomsen's disease (Lortat-Jacob et Thaon). Thomsen's disease with muscular atrophy (Nogues et Sirol). Atypical forms of Thomsen's disease (Pelz). Muscular-atrophy with slow relaxation of muscles (nachdauernde MuskeLkontractionen) (Kleist). Myotonia atrophica (Rossolirno and others). We have adopted that of " myotonia atrophica," first used by Eossolimo, because it serves shortly to describe the salient features, and because it is the name under which several authors have since described this condition.

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Frederick Batten

Dyken¹

2021

Child Neurology

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Two Cases of Myotonia Atrophica, Showing a Peculiar Distribution of Muscular Atrophy

Cited by 3 publications

References 0 publications

Regulatory RNAs in brain function and disorders

Regulatory RNAs in brain function and disorders

Myotonia Atrophica.

Frederick Batten

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