Table 1
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 |
[i] MD1: myotonic dystrophy type 1; MD2: myotonic dystrophy type 2; hyper-CKemia: creatine kinase; IgG: immunoglobulin G; IgM: immunoglobulin M.
Figure 1
Course of blood values over 20 years in the described patient. Creatine phosphokinase (CPK), GOT, GPT, and LDH (upper left). Glucose triglyceride, and cholesterol (upper right). Hb A1c and uric acid (lower left). Thrombocytes (lower right).
Figure 2
Abdominal CT scan showing a hydroureter and a renal cyst on the left side.