| Heredity |
Autosomal dominant |
| Prevalence |
1 in 3000 and 8000 individuals |
| Cancer |
Reproductive tract (endometrial, ovarian and testicular), thyroid and colorectal |
| High risk of tumour development |
| Anticipation |
Present |
| Life expectancy |
Reduced |
| Mortality |
70%, Caused by cardiorespiratory complications |
| Appearance |
Forehead balding |
| Myopathic face |
| Temporal wasting |
| Ptosis |
| Nasal/slurred speech |
| Dysphagia |
| Age at onset |
Childhood to adulthood |
| Congenital form |
Present |
| Facial dysmorphism |
Present in congenital form |
| Male hypogonadism |
Present |
| Insulin Resistance |
Present |
| Dyslipidemia |
Present |
| Metabolic syndrome |
Present |
| Thyroid deficiency |
More common |
| Diabetes mellitus |
High risk of development |
| Creatine kinase, liver enzymes and cholesterol |
Elevated |
| Hypogammaglobulinemia |
High incidence |
| Muscle weakness |
Extreme at 50 years of age (distal) |
| Muscle Pain/myalgia |
Less frequent |
| Clinical myotonia |
Evident in early adulthood |
| Myotonia |
Handgrip, tongue (distal) |
| Atrophy |
Distal (early) |
| Type 1 fiber atrophy |
Present |
| Calf hypertrophy |
Absent |
| Cardiac arrhythmias |
Present |
| Sudden death |
More common |
| Sleep disorders |
Present |
| Cognitive decline |
Prominent in congenital form |
| Central nervous system problems |
Present |
| Cataracts |
Present |
| Respiratory failure |
Present |
| Gastrointestinal problems |
Present |
| Abdominal pain |
Present |
| Constipation |
Present |
| Gene |
DMPK, chromosome 19q13.3, CTG expansion at 3’UTR |
| DMPK |
Reduced |
| CNBP/ZNF-9 |
Normal |
| CUGBP1 |
Upregulated |
| MBNL1 |
Down regulated/sequestered |
| Ribonuclear inclusion |
Present |
| Spliceopathy |
Present |
| Transcription dysregulation |
Present |
| MicroRNA dysregulation |
Present |
| RNA translation |
Present |
