Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion
, , , et | 31 déc. 2018
À propos de cet article
Article Category: Case Report
Publié en ligne: 31 déc. 2018
Pages: 39 - 43
DOI: https://doi.org/10.2478/bjmg-2018-0024
Mots clés
© 2018 Finsterer J, Stöllberger C, Reining-Festa A, Loewe-Grgurin M, Gencik M, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Figure 1
Figure 2
Clinical manifestations of MD1 and MD2 in the presented case and in the literature.
| Manifestation | Current Case | MD1 | MD2 |
|---|---|---|---|
| Muscle: | |||
| myopathic face | no | yes | yes |
| limb muscle weakness | no | yes | yes |
| clinical myotonia | yes | yes | yes |
| myalgias | no | no | yes |
| muscle wasting | no | yes | yes |
| calf hypertrophy | no | no | yes |
| hyper-CKemia | yes | yes | yes |
| Peripheral nerves: | |||
| polyneuropathy | yes | yes | yes |
| autonomic dysfunction | no | yes | no |
| Brain: | |||
| cognitive impairment | no | yes | no |
| behavioral abnormalities | no | yes | no |
| mental retardation | no | yes | no |
| daytime sleepiness | no | yes | yes |
| white matter lesions | no | yes | no |
| Eyes: | |||
| cataracts | yes | yes | yes |
| low intraocular pressure | no | yes | no |
| pigmentary retinopathy | no | yes | yes |
| epiretinal membranes | no | yes | yes |
| Endocrine: | |||
| diabetes | yes | yes | yes |
| hyperthyroidism | no | no | yes |
| hyperhidrosis | no | no | yes |
| hypogonadism | no | yes | yes |
| abortus, stillbirth | no | yes | no |
| Cardiac: | |||
| conduction defects | yes | yes | yes |
| arterial hypertension | yes | yes | no |
| myocardial thickening | no | yes | yes |
| dilative cardiomyopathy | no | yes | yes |
| noncompaction | no | yes | yes |
| elevated GGT | no | yes | yes |
| Gastrointestinal: | |||
| dysphagia | no | yes | yes |
| dysmotility | no | yes | yes |
| steatosis | no | yes | no |
| liver cirrhosis | no | no | yes |
| gallstones | yes | yes | no |
| Bones: | |||
| hyperostosis | no | yes | no |
| foot deformities | no | yes | no |
| small sella | no | yes | no |
| large air sinuses | no | yes | no |
| Skin: | |||
| frontal balding | no | yes | yes |
| pilomarticoma | no | yes | no |
| Others: | |||
| hydroureter | yes | no | no |
| hyperlipidemia | yes | yes | no |
| hyperuricemia | yes | no | no |
| thrombocytosis | yes | no | no |
| renal cysts | yes | no | no |
| low IgG, IgM | no | yes | yes |