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Muscular Dystrophy

Muscular Dystrophy (MD) is a genetic condition that causes gradual weakening and wasting of muscles.


The most common type is Duchenne’s MD, followed by Becker’s MD (milder version of duchenne’s). Both of these are X-linked recessive disorders that cause mutations in the expression of Dystrophin (a protein involved in muscle contraction).


Duchenne’s Muscular Dystrophy

Here, there's no expression of Dystrophin.


It presents with:

  • Usually wheelchair-bound before puberty and pass away due to respiratory failure in their early 20s

  • Bulky-muscles (particularly calves), as degenerated muscle is replaced by fat

  • Proximal muscle weakness

Drawing of 7-year-old boy with Duchenne muscular dystrophy. There is excessive development of the lower limbs (pseudohypertrophy), and thinness of the arms. In the figure on the right, lumbar hyperlordosis is visible. - Duchenne, Guillaume-Benjamin (https://en.wikipedia.org/wiki/File:Drawing_of_boy_with_Duchenne_muscular_dystrophy.png)

A sign that's seen here is Gower’s Sign. It indicates proximal muscle weakness. To assess for this, you can ask a child to get up from a sitting position on the floor. They'll keep their legs wide and walk their arms up their legs to get up from the floor.

Gower's sign - William Richard Gowers (https://commons.wikimedia.org/wiki/File:Gowers%27s_sign.png)

Becker’s Muscular Dystrophy

Here, there's little expression of Dystrophin.


It presents in the same way as Duchenne's MD, but presents later in childhood with a longer survival time.

Investigations

  • Genetic testing

  • CK – Good screening test and way of monitoring disease progression



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