Disease of the Muscle

Question 1

5 clinical investigations of muscle disease

Answer 1

Clinical examination (neurological)
Electromyograph
Nerve conduction study
MRI
Serum/blood investigations

Question 2

3 types of muscle disease

Answer 2

Neurogenic muscle disease
Motor end-plate disorder
Primary muscle diseases-myopathies

Question 3

A common disease of the ECM

Answer 3

Duchenne musclular dystrophy

Question 4

What type of inheritence is Duchenne muscular dystrophy?

Answer 4

Sex linked recessive

Question 5

Relentlessly progressive wasting, chair bound by 12 years, hypertrophy of calves

Answer 5

Duchenne muscular dystrophy

Question 6

Pathogenesis of duchenne muscular dystrophy

Answer 6

-

Question 7

Diagnosis of duchenne muscular dystrophy

Answer 7

-

Question 8

A type of muscular dystrophy presenting with weakness of proximal arm and distal leg msucles, early contractures and cardiomyopathy

Answer 8

Emery-dreifuss muscular dystrophy

Question 9

Heterogenous muscular dystrophy

Answer 9

Limb girdle muscular dystrophy

Question 10

3 types of muscular dystrophy

Answer 10

Duchenne
Emery-dreifuss
Limb girdle

Question 11

An internal cytoskeletal protein disease affecting the centre of a muscle fibre which is devoid of normal histochemical reactivity

Answer 11

Central core disease

Question 12

Presentation of nemaline myopathy

Answer 12

Generalised neonatal hypotonia
Respiratory insufficiency
High arched palate
Kyphoscoliosis

Question 13

Abnormal susceptibility to certain inhalational anaesthetic agents- prolonged rise in intracellular calcium ions, rigid contractions and elevation in body temperature

Answer 13

Malignant Hyperthermia

Question 14

Dominantly inherited condition- myotonia and progressive weakness of facial muscles. Onset 20-30yrs. Cardiac conduction defects

Answer 14

Myotonic dystrophy

Question 15

Pathogenesis of myasthenia gravis

Answer 15

Autoimmune disease with antibodies, usually IgG, against the acetylcholine receptor

Question 16

Rare non-metastatic manifestation of malignancy, usually oat-cell carcinoma of the bronchuus

Answer 16

Eaton-Lambert Myasthenic Syndrome

Question 17

An inflammatory myopathy responsible for chronic debilitating disease, and what type of rash?

Answer 17

Dermatomyositis

Scaly rash

Question 18

Cause of acute necrotising myopathy causing rhabdomyolyssis, myoglobinuria and renal failure

Answer 18

Heroin

Ecstasy

Question 19

Motor neuron disease

Answer 19

Progressive- middle to old age
Widespread degeneration of motor neurons
Upper and lower motor neuron signs with wasting associated with spasticity and brisk reflexes