Muscular

Question 1

Duchenne

Answer 1

X linked recessive
Progressive wasting and weakness
Hypertrophy of calves

Question 2

Emery-Driefuss

Answer 2

X linked recessive
Weakness of proximal arm and distal leg muscles
Cardiomyopathy

Question 3

Limb Girdle Dystrophy

Answer 3

Heterogenous

Question 4

Core Disease

Answer 4

AD

Central core hollowed in type 1 fibres

Question 5

Nemaline Myopathy

Answer 5

Neonatal hypotonia
Resp insufficiency
Kyphoscoliosis
AR

Question 6

Malignant Hyperthermia

Answer 6

Inhaled anaesthetics cause rise in intracellular calcium

Get contractions and hyperthermia

Question 7

Myotonic Dystrophy

Answer 7

AD
Myotonia and facial weakness
Cardiac conduction probs
Atrophy of type 1 and hypertrophy of type 2

Question 8

Facioscapulohumeral Dystrophy

Answer 8

AD
Affects myocardium
Progressive deafness and blindness

Question 9

Eaton-Lambert

Answer 9

Rare non metastatic carcinoma

Fibres atrophy

Question 10

Dermatomyositis

Answer 10

Scaly fash
Fibres necrose and fibrose
T4 cells proliferate
Peri-ocular oedema and erythema

Question 11

Drug-Induced Myopathy

Answer 11

Due to statins and steroids

Get acute necrotising myopathy (due to heroin and ecstasy)

Question 12

MND

Answer 12

Degeneration of MNs
Ant horn cells and brain stem nuclei also
Wasting, spasticity and brisk reflexes