clinical aspects of peripheral nerve and muscle disease · 2017-01-27 · clinical aspects of...
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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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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
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Peripheral Neuropathy
• Mononeuropathy
• Mononeuropathy Multiplex
• Polyneuropathy
• Distal distribution of Sensory
and motor signs and
symptoms
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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)
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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
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MRI of cervical Nerve root tumours
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MRI of cervical Nerve root tumour
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Peripheral Neuropathy
Investigations
• Nerve Biopsy
– Axonal degeneration
– Segmental Demyelination
– Inflammatory changes
– Others (Amyloid, paraprotein,..)
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Axonal Degeneration and Regeneration
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Segmental Degeneration Autoimmune Segmental
Degeneration
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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?
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Where is the pathology?
Dermatomes
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Clinical Evaluation of Compression Neuropathy
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Toxic Neuropathies
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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
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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
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Muscle disease
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Clinical Pathology
Genetics
Diagnosis of Muscle Disease
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Perivascular Lymphocytes
Myofibils
Satellite cell
Sarcolemma
Nucleus
EM of muscle fiber
Basal lamina or
Basement
membrane
Macrophages
Regenerating myoblast
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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
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Myopathy
• Features Supporting Diagnosis:
– Distribution proximal
– Muscle Bulk preserved or enlarged
– Reflexes Parallel muscle strength
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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.
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Myopathy
• Features against diagnosis:
– Distal weakness
– Fasciculations
– Tremor
– Sensory signs (or symptoms)
– Pathological fatigue
– Early absence of reflexes
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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
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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
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Perivascular Lymphocytes
Myofibils
Satellite cell
Sarcolemma
Nucleus
EM of muscle fiber
Basal lamina or
Basement
membrane
Macrophages
Regenerating myoblast
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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
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