Myotonic dystrophy

Question 1

Presentation

Answer 1

Myopathic facies, frontotemporal balding, ptosis, cataracts
Wasting of the facial muscles and small muscles of the hands
Difficulty on releasing hands after squeezing,
Distal wasting and weakness with impairment of fine movements
Foot drop
Depression of deep tendon reflexes
Myotonia

Question 2

Associated features/conditions

Answer 2

Diabetes
Cardiomyopathy
Valvular heart disease
Arrhythmias
Conduction defects
Hypogonadism
Goitre

Question 3

Genetic basis -

Answer 3

autosomal dominant - trinucleotide repeat

Question 4

CV complications

Answer 4

Conduction defects, mitral valve prolapse, cardiomyopathy, arrhythmias

Question 5

Endocrine complications

Answer 5

Diabetes, hypogonadism, nodular thyroid enlargement

Question 6

GI complications

Answer 6

dysphagia, reflux, delayed gastric emptying

Question 7

Differentials for distal wasting and weakness

Answer 7

• Hereditary Motor Sensory Neuropathy
• MND
• Spinal muscular atrophy
• Inclusion body myositis