A 35-year-old man presents with muscle stiffness, weakness, and difficulty relaxing muscles after contraction. He also has facial weakness, ptosis, and a family history of similar symptoms. What is the likely diagnosis, and what tests would you order to confirm it?
2 Likes
This sounds to me like “myotonic dystropia”
Tests one can run:
- Genetic Testing
- EMG
- Muscle biopsy
1 Like
Myotonic dystrophy is likely. I’d order genetic testing for DMPK or CNBP gene mutations, and an EMG to confirm the myotonia.
2 Likes
Myotonic Dystrophy (Type 1) or Steinert disease due to Muscle stiffness (myotonia) is the hallmark.
Confirmation is done by CTG trinucleotide repeat expansion test, CK level, EMG, muscle biopsy
I think Myotonic dystrophy is the answer? Tests will be EMG and biopsy
Likely diagnosis is Myotonic Dystrophy.
Confirm with genetic testing for CTG repeat expansion in the DMPK gene. Also consider EMG, CK levels, and ECG for systemic involvement.