Duchene muscular dystrophy

Question 1

How DMD occurs (4)

Answer 1

Hereditary neuromuscular
disease in childhood

Mutation of dystrophene gene on x chromosome

causes loss of dystrophine due to mutation, ca2+ enters muscles fibres

Breakdown of protein molecules (proteolysis)

Question 2

At risk (7)

Answer 2

Males

If a women had mutation both x C

Calf hypertrophy

Imbalance in the lower limbs e.g hips flexors

walking issues

mild-sever intellectual disability

Hyperactivity and delayed motor MS

Question 3

Diagnose (6)

Answer 3

Measure creatine K levels

elevated 50-150 t higher

Genetic testing 4 mut via dup/del of gene

xp21 mutation, strong indication

muscular mri 4 some cases

also monitor progression

Question 4

Treatment (7)

Answer 4

No cure, dif treat 2 man symptoms

No treatment = patient may lose ability to walk age 12

require a ventilator

Ambulatory stage: corticosteroid, vit d , physio

Early am: Previous treatments with assistive tech

Aids daily activites

LS : Assisted vent + therapy

Question 5

Prevent

Answer 5

Can’t prevent due 2 being genetic disorder