Myotonic Dystrophy Flashcards
1
Q
What is myotonic dystrophy?
A
Expanded trinucleotide repeats causing myotonia associated with cataracts, frontal baldness, cardiac and endocrine disturbance and intellectual changes
2
Q
What ultrasound features can be identified in a fetus with myotonic dystrophy?
A
- Club feet
- Polyhydramnios
- Abnormal orbits/eyes, hypertelorism
3
Q
How is myotonic dystrophy inherited?
A
Autosomal Dominant
4
Q
What is the phenotype of myotonic dystrophy?
A
- Cataracts
- Clubbed feet
- Hypotonia
- Breathing difficulties
- Intellectual disabilities
5
Q
What patients should be screened for myotonic dystrophy carrier status?
A
Family history and personal history of weakness and cataracts
6
Q
Is myotonic dystrophy associated with maternal or paternal expansion of trinucleotide repeats?
A
Maternal
7
Q
what is a premutation carrier for myotonic dystrophy?
A
35-39 CTG repeats
8
Q
Which gene is affected in myotonic dystrophy?
A
DMPK gene
