Upper Thoracic Myelopathy Caused by Delayed Neck Extensor Weakness in Myotonic Dystrophy

Son, Han Kyeong; Young, Sun; Suh, Hwi; Ki, Chang‐Seok; Shin, Yong Beom

doi:10.5535/arm.2012.36.4.569

Cited by 4 publications

(2 citation statements)

References 9 publications

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“…The same patient had additionally, signs of upper motor neuron dysfunction. In the literature, myelopathy was described only in one case as a result of hypertrophy of ligamentum flavum and posterior longitudinal ligament due to mechanical stress on the spinal cord, secondary to neck extensor muscle weakness, although in our patient MRI is normal . Additionally, we found one paper with a description of a family in which DM coexists with spastic paraplegia, what was not excluded in our patient .…”

Section: Discussionmentioning

confidence: 63%

Peripheral neuropathy in patients with myotonic dystrophy type 2

Leonardis

2016

Acta Neurol Scand

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Section: Discussionmentioning

confidence: 63%

Peripheral neuropathy in patients with myotonic dystrophy type 2

Leonardis

2016

Acta Neurol Scand

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“…Only reported cases with well-documented relevant information about gender, CTG repeat size of the DMPK , and/or the DM1 phenotype of the transmitting parent and the affected child were included. After a literature search related to Korean DM1 [ 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 ], 39 parent–child matched pairs with information about each gender, the CTG repeat size of the DMPK , and/or the DM1 phenotype were included in this study.…”

Section: Intergenerational Data Collection and Analysismentioning

confidence: 99%

Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1

Han

Jang

Park

2022

Genes

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Myotonic dystrophy type 1 (DM1) is the most common autosomal-dominant disorder caused by the CTG repeat expansion of the DMPK, and it has been categorized into three phenotypes: mild, classic, and congenital DM1. Here, we reviewed the intergenerational influence of gender and phenotype of the transmitting parent on the occurrence of Korean DM1. A total of 44 parent–child pairs matched for the gender of the transmitting parent and the affected child and 29 parent–child pairs matched for the gender and DM1 phenotype of the transmitting parent were reviewed. The CTG repeat size of the DMPK in the affected child was found to be significantly greater when transmitted by a female parent to a female child (DM1-FF) (median, 1309 repeats; range, 400–2083) than when transmitted by a male parent to a male child (650; 160–1030; p = 0.038 and 0.048 using the Tukey HSD and the Bonferroni test) or by a male parent to a female child (480; 94–1140; p = 0.003). The difference in the CTG repeat size of the DMPK between the transmitting parent and the affected child was also lower when transmitted from a male parent with classic DM1 (−235; −280 to 0) compared to when it was transmitted from a female parent with mild DM1 (866; 612–905; p = 0.015 and 0.019) or from a female parent with classic DM1 (DM1-FC) (605; 10–1393; p = 0.005). This study highlights that gender and the DM1 phenotype of the transmitting parent had an impact on the CTG repeat size of the DMPK in the affected child, with greater increases being inherited from the DM1-FF or DM1-FC situations in Korean DM1.

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