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 |