Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion

Figures & Tables

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