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Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton School of Medicine

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Page 1: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Clinical Aspects of Peripheral

Nerve and Muscle Disease

Roy Weller

Clinical Neurosciences

University of Southampton School of Medicine

Page 2: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Normal Nerves

Motor Sensory

1. Anterior Horn Cell

2. Dorsal root ganglion cell

3. Motor Peripheral Nerve

4. Sensory Peripheral Nerve

5. Neuromuscular Junction

6. Sensory ending

7. Muscle

Page 3: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Peripheral Neuropathy

• Mononeuropathy

• Mononeuropathy Multiplex

• Polyneuropathy

• Distal distribution of Sensory

and motor signs and

symptoms

Page 4: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Peripheral Neuropathy

1. Sensory:

2. Motor:

a. Paraesthesia (tingling, pins & needles, prickling, burning…)

b. Numbness (Hypoaesthesia)

c. Abnormal degrees and types of sensation

a. Weakness

b. Wasting

c. Muscle twitching (fasciculations)

Page 5: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Peripheral Neuropathy

Investigations

• Blood tests: Part of the general investigation

• CSF:

– Protein raised in inflammatory conditions

• Radiology (CXR, MR Imaging)

• Nerve Conduction Studies + EMG

– Axonal degeneration Vs Demyelinating

Page 6: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

MRI of cervical Nerve root tumours

Page 7: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

MRI of cervical Nerve root tumour

Page 8: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Peripheral Neuropathy

Investigations

• Nerve Biopsy

– Axonal degeneration

– Segmental Demyelination

– Inflammatory changes

– Others (Amyloid, paraprotein,..)

Page 9: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Axonal Degeneration and Regeneration

Page 10: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Segmental Degeneration Autoimmune Segmental

Degeneration

Page 11: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Clinical Approach to

Peripheral Neuropathy

• Which systems are involved?

• What is the distribution of weakness?

• What is the nature of the sensory

involvement?

• What is the temporal evolution? Acute,

Subacute, Chronic, relapsing,..

• Is there evidence of heredity?

Page 12: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton
Page 13: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Where is the pathology?

Dermatomes

Page 14: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Clinical Evaluation of Compression Neuropathy

Page 15: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Toxic Neuropathies

Page 16: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Nerve Biopsy

• When to biopsy a nerve?

– Neuropathy is severe, actively worsening

– Essential for diagnosis

• Complications

– 10-15%

– Localised Sensory loss

– Wound infection, dehiscence, neuroma formation

– Unpleasant dysaesthesiae, neuropathic pain

Page 17: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Peripheral Neuropathies in Which a Nerve

Biopsy May Be Useful

• Acquired

– Vasculitis*

– Sarcoidosis*

– Amyloidosis*

– CIDP

– IgM Paraproteinaemic N

– Leprosy

– Tumour infiltration*

*Nerve Biopsy often essential for Dx

• Hereditary

– CMT types 1A,1B &3

– HNPP (tomaculous

neuropathy)

– Amyloidosis

– Giant Axonal Neuropathy

– Metachromatic

Leukodystrophy

– Polyglucosan body N*

– Refsum’s disease

Page 18: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Muscle disease

Page 19: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Clinical Pathology

Genetics

Diagnosis of Muscle Disease

Page 20: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Perivascular Lymphocytes

Myofibils

Satellite cell

Sarcolemma

Nucleus

EM of muscle fiber

Basal lamina or

Basement

membrane

Macrophages

Regenerating myoblast

Page 21: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Clinical Classification of Myopathies:

Primary diseases of Muscle

• Hereditary:– Muscular dystrophies

– Myotonias

– Channelopathies

– Congenital myopathies

– Metabolic myopathies

– Mitochondrial myopathies

• Acquired:

– Inflammatory myopathies

– Endocrine myopathies

– Myopathies associated

with other systemic illness

– Drug-induced myopathies

– Toxic myopathies

Page 22: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Myopathy

• Features Supporting Diagnosis:

– Distribution proximal

– Muscle Bulk preserved or enlarged

– Reflexes Parallel muscle strength

Page 23: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Distribution of weakness

can aid diagnosis in

muscular dystrophies:

a] Duchenne and Becker;

b] Emery Dreifuss;

c] limb-girdle;

d] fascioscapulohumeral;

e] distal;

f] oculpharyngeal

Most myopathies have a

proximal distribution of

weakness and pain.

Page 24: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Myopathy

• Features against diagnosis:

– Distal weakness

– Fasciculations

– Tremor

– Sensory signs (or symptoms)

– Pathological fatigue

– Early absence of reflexes

Page 25: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Muscle biopsy

• Which Muscle?

– Moderately involved, but avoid muscle with

severe weakness

– Best Specific Muscles: Deltoid, Biceps,

Quadriceps

– Avoid: Muscle sampled by EMG or sites of

recent trauma

Page 26: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Muscle Disease: Pathology &

Genetics2nd Edition

Edited by

Hans H. Goebel, Caroline A. Sewry and

Roy O. Weller

Publisher, International Society of Neuropathology &

John Wiley & Sons Limited

2013

Page 27: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

Perivascular Lymphocytes

Myofibils

Satellite cell

Sarcolemma

Nucleus

EM of muscle fiber

Basal lamina or

Basement

membrane

Macrophages

Regenerating myoblast

Page 28: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton

9

8

4

11

10

14/15/16Perivascular Lymphocytes

Myofibils

Satellite cell

2

3

Sarcolemma

5/12/13

Nucleus

6

EM of muscle fiber

14

17

7

Basal lamina or

Basement

membrane

Macrophages

Regenerating myoblast

1

Page 29: Clinical Aspects of Peripheral Nerve and Muscle Disease · 2017-01-27 · Clinical Aspects of Peripheral Nerve and Muscle Disease Roy Weller Clinical Neurosciences University of Southampton