Complaints and Specialists

Individuals with myotonic dystrophy (DM) may experience a range of complaints and visit many physicians before they receive the correct diagnosis. Such physicians may be seen for a range of symptoms, including:

  • Primary Care Physician - exhaustion, inability to sleep well, excessive daytime sleepiness, feeling faint
  • Pediatrician - floppy baby or child with learning and behavioral problems
  • Ophthalmologist - blurry or dimmed vision (possible cataracts), eye muscle weakness, droopy eyelids (ptosis)
  • Cardiologist - abnormal heartbeat, cardiomyopathy (heart damage), fainting spells
  • Pulmonary Specialist - chronic respiratory problems, sleep apnea, frequent chest colds that do not go away, aspiration pneumonia caused by swallowing issues
  • Endocrinologist - insulin resistance, benign thyroid mass
  • Dermatologist - benign tumors associated with hair follicles (pilomatrixoma)
  • Gastroenterologist - chronic diarrhea, constipation, unexplained stomach pain, gall stones, swallowing problems
  • Urologist and Reproductive Endocrinologist - ectopic pregnancies, low testosterone, infertility, miscarriage, stillbirths
  • Psychiatrist - depression, personality abnormalities such as excessive apathy, socialization issues, and attention deficit
  • Neurologist - nerve and muscle complaints including weakness, stiffness, and chronic muscle pain, cognitive development delays, reduced executive function
  • Anesthesiologist - respiratory failure before and after general anesthesia
  • Orthopedic surgeon - feet deformities, curvature of the spine
  • Plastic surgeon/Oral Surgeon - jaw and mouth bone deformaties disturbing chewing and speech
  • Audiologist - hearing loss
  • Speech pathologist - delayed or impaired speech, swallowing difficulties
  • Physical therapist - gait irregularities and muscle weakness

Subsequently, it is essential that the specialists coordinate their efforts to ensure that patients receive the best medical care. Click here for more technical information on how physicians diagnose and treat the systems affected by myotonic dystrophy.