Muscle and Nerve Disease

Question 1

Common symptoms of muscle disorders

Answer 1

Weakness of skeletal muscles 
Dyspnoea (respiratory muscles affected) 
Cardiomyopathy 
Poor feeding/failure to thrive in newborns 
Cramping and pain 
Myoglobinuria

Question 2

Common signs of muscle disorders

Answer 2

Wasting/hypertrophy
Normal/reduced tone and reflexes
Motor weakness

Question 3

Classifications of muscle diseases

Answer 3

Muscular dystrophies 
Channelopathies
Metabolic  muscle disease 
Inflammatory muscle disease 
Congenital myopathies

Question 4

Examples of muscular dystrophies

Answer 4

Duchenne's 
Becker's 
Facioscapulohumeral 
Myotonic dystrophy 
Limb-Girdle

Question 5

Examples of channelopathies

Answer 5

Disorders of Ca, Na and Cl channels 
Familial hypokalaemic periodic paralysis 
Hyperkalaemic periodic paralysis 
Paramyotonia congenital 
Myotonia congenital

Question 6

Examples of metabolic muscle diseases

Answer 6

Disorders of carbohydrate/lipid metabolism

Mitochondrial myopathies/cytopathies

Question 7

Examples of inflammatory muscle diseases

Answer 7

Polymyositis

Dermatomyositis

Question 8

Presentation of inflammatory muscle diseases

Answer 8

Acute or subacute presentation
Painful, weak muscles
Characteristic rash if dermatomyositis

Question 9

Treatment of inflammatory muscle disease

Answer 9

Immunosuppression

Question 10

Common investigations for muscle disease

Answer 10

History and examination 
Creatine-kinase 
EMG 
Muscle biopsy for structure, biochemistry and inflammation 
Genetic testing

Question 11

Investigations of inflammatory muscle diseases

Answer 11

Creatine-kinase - would be elevated
EMG - inflammation and myopathic
Biopsy

Question 12

Clinical presentation of myasthenia gravis

Answer 12

Fatiguable weakness of limbs and muscles of mastication 
Ptosis 
Speech affected 
Dyspnoea 
Diplopia

Question 13

Investigations of myasthenia gravis

Answer 13

AChR antibody 
Anti-MuSK antibody 
Neurophysiology - EMG, repetitive stimulation 
Tensilon test 
CT chest

Question 14

Symptomatic treatment of myasthenia gravis

Answer 14

Acetylcholinesterase inhibitor

Question 15

Immunosuppressive treatment of myasthenia gravis

Answer 15

Prednisolone

Steroid-sparing agent

Question 16

Conditions associated with myasthenia gravis

Answer 16

Thymic hyperplasia in young people

Malignant thymoma in older people

Question 17

Under what circumstances might a thymectomy be done?

Answer 17

Malignant thymoma in females < 40

Question 18

Peripheral nerves consist of

Answer 18

sensory and motor axons

Question 19

Causes of peripheral nerve disease

Answer 19

Degenerative spine disease
Inflammation
Infiltration
Lesions

Question 20

Examples of lesions of individual peripheral nerves

Answer 20

Compressive/entrapment neuropathy

Vasculitic

Question 21

Causes of generalised peripheral neuropathy

Answer 21

Metabolic e.g. diabetes mellitus 
Toxic - drugs 
Hereditary 
Infectious e.g. Lyme disease 
Malignancy 
Inflammatory demyelinating conditions (acute or chronic) e.g. Guillain Barre syndrome

Question 22

Symptoms of pathology at the nerve root

Answer 22

Myotomal wasting and weakness
Reflex change
Dermatomal sensory change

Question 23

Symptoms of pathologies of an individual nerve

Answer 23

Wasting and weakness of the innervated muscle

Specific sensory change

Question 24

Symptoms of generalised peripheral neuropathy

Answer 24

Sensory and motor symptoms starting distally and moving proximally

Question 25

Investigation of nerve disease

Answer 25

``` Blood tests Genetic analysis Nerve conduction study Lumbar puncture - CSF analysis Nerve biopsy ```

Question 26

Most common cause of Guillain-Barré syndrome

Answer 26

Acute inflammatory demyelinating polyradiculoneuropathy (AIDP)

Question 27

Typical presentation of Guillain-Barré syndrome

Answer 27

2-4 weeks after relatively benign respiratory/GI illness Complaints of finger dysesthesias and proximal muscle weakness of lower extremities Weakness progressing to involve arms, trunk, cranial nerves and respiratory muscles

Question 28

Typical pattern of weakness in Guillain-Barré syndrome

Answer 28

Ascending and symmetrical | Lower limbs affected before upper limbs

Question 29

Symptoms of Guillain-Barré syndrome

Answer 29

``` Pain, tingling and numbness Progressive muscle weakness Co-ordination problems and unsteadiness Temporary paralysis of legs, arms, face or respiratory muscles Blurred vision/diplopia Difficulty speaking Dysphagia Difficulty with digestion/bladder control HR and BP fluctuations ```

Question 30

Clinical features of an upper motor neurone lesion

Answer 30

``` Muscle weakness Decreased control of active movement Spasticity Clasp-knife response Babinski sign Increased deep tendon reflex Pronator drift ```

Question 31

Clinical features of a lower motor neurone lesion

Answer 31

``` Muscle paresis/paralysis Fibrillations Fasciculations Hypotonia/atonia Hyporeflexia Weakness limited to segmental or focal pattern Muscle wasting in end-stage ```

Question 32

What is myelopathy?

Answer 32

Disease of the spinal cord

Question 33

What is radiculopathy?

Answer 33

Condition due to compression of a nerve in the spinal cord

Question 34

Symptoms of radiculopathy

Answer 34

Pain Numbness Tingling Weakness

Question 35

Causes of non-compressive spinal cord lesions

Answer 35

``` Myelitis Vascular Metabolic Drugs and toxins Physical agents Degenerative ```

Question 36

Clinical presentation of motor neurone disease

Answer 36

Limb onset UMN and LMN signs Lower motor neurone - muscle fasciculations, wasting, weakness Upper motor neurone - increased tone, brisk reflexes No sensory involvement

Question 37

How is motor neurone disease diagnosed

Answer 37

Clinical presentation of combination of UMN and LMN signs, and EMG

Question 38

Treatment of motor neurone disease

Answer 38

Supportive - PEG, NIV | Riluzole