Muscular dystrophies

Question 1

What are the three ways Muscular Dystrophies can be diagnosed?

Answer 1

1) Blood tests to test for Creatine kinase (CK) levels, which would be highly elevated.
2) Genetic testing to identify for faulty genes.
3) A muscle biopsy to analyse any changes in muscle histology.

Question 2

Which type of inheritance pattern is displayed in Duchene muscular dystrophy

Answer 2

X-linked recessive.

Question 3

What is the first symptom of DMD

Answer 3

Gower’s maneuver

Question 4

What do you look for in Histological analysis?

Answer 4

• Increased endomysial connective tissue (huge space)
• Variable fiber size
• centrally located nuclei
• Infiltration

Question 5

What potential therapies are there for MD?

Answer 5

1) Restoring the missing protein
- Adeno-associated vector (AAV)-mediair gene transfer
- read-through stop codon strategies
- exon skipping
2) Upregulating compensatory proteins
- paralogues/homologues
- stem cell transplantation