Neuropathy / Myopathy

Dr. Ronan Walsh

Consultant Neurologist &
Neurophysiologist
 Learning objectives:

Understand the clinical features of

peripheral neuropathy
Causes of peripheral neuropathy
Clinical features of myopathy
Causes of myopathy
Basic investigations of patient with
myopahty
 Neuropathy

A disorder of any or all of the peripheral

nerves or nerve roots.
 Epidemiology
Incidence: 69/100,000/yr

Lifetime prevalence 3/1000

Any age, but most commonly the

middle aged and elderly

M=F
 Neuropathy
Anatomical classification

Mononeuropathy

Multiple mononeuropathies

Polyneuropathy
 Neuropathy
Pathological classification

Axonal

Demyelinating

(neuronopathy)
 Neuropathy
Nerve fibre type classification

Large fibre

Small fibre

Cranial

Autonomic
 PERIPHERAL NEUROPATHY
Can affect sensory, motor, autonomic, cranial
nerves or combinations of these

Essential to perform a detailed history and

examination to narrow the differential diagnosis
& guide work-up

7 common patterns of neuropathy that guide

laboratory & electrodiagnostic evaluation
 Aetiologies
Inherited Ass. with systemic disease

Autoimmune Ass.with malignancy

Metabolic Infection

Toxic HIV
 Symptoms
Sensory

Motor

Autonomic
 HISTORY
1. Which nerve fibre types?

2. Pattern: sensory, motor, sensorimotor, automonic?

3. Acute, subacute, chronic?

4. Past medical history?

5. Family history?
 HISTORY
1. What nerve fibre types are involved?
- sensory, motor or a combination of both?
- positive or negative sx? (Acquired v Hered)
- autonomic?
- small or large sensory fibers?
- incoordination & ataxia primarily?
(Ganglionopathy/Neuronopathy)
 HISTORY
2. What pattern of sensory & motor involvement?
- legs > arms => length dept
- proximal or distal weakness (stocking/glove)?
- symmetric or asymmetric?
- face or trunk involved?
- arms > legs or prox > distal => not length dept.!
- No sensory: myopathy & NMJ (rarely distal), MND
 HISTORY
3. What is the temporal nature of onset &
progression?
Acute?
Subacute?
Chronic?
Monophasic?
Relapsing-remitting?
Slowly or rapidly progressive?
 HISTORY
4. Past medical history?
- primary disorders (DM, cancer, HIV, myeloma)
- medications (vincristine, amiodarone, colchicine,
INH, nitrofurantoin, dapsone, cisplatin, disulfiram)
- toxins (ETOH, lead, thallium, arsenic)
- metabolic (B12, thiamine, amyloid, porphyria)
- family history (may be undiagnosed as mildly affected)
 LMN signs
Hypotonia Fasciculation

Wasting Decreased reflexes

Weakness
 LMN signs in
Disorders of nerve root

Disorders of nerve

Disorcers of anterior horn cell

Disorders of muscle

(NMJ disorders)
 EXAMINATION
Inspect atrophy, fasciculations, myokymia,
deformities, pes-cavus, hammer toes.

Tone normal or reduced usually, but can be

increased with ALS

Pattern of muscle weakness

Prox or distal
Nerve territory e.g. median, ulnar, radial, peroneal
Radicular (myotomal)
 EXAMINATION
Reflexes
- reduced or absent
- distally or generalized areflexia
- increased: ALS?

Plantar responses
- flexor or mute
- extensor: ALS?
 EXAMINATION
Gait
- ask the patient to walk
- can they walk on their heels and toes
- tandem walk (i.e. heel-to-toe)
- Rhomberg (sensory ataxia, large fiber or dorsal
column)
 NEUROPHYSIOLOGY
Sensory and motor nerve conduction
studies
Characterize the neuropathy as axonal or
demyelinating
Decreased amplitudes usually associated
with axonopathies
Prolonged distal latencies, F-wave
latencies, and slow conduction velocities =
demyelination
 NEUROPHYSIOLOGY
Uniform and diffuse conduction velocity
slowing suggest hereditary

Focal slowing, temporal dispersion and

partial conduction block suggest acquired
(e.g. GBS, CIDP)
Pattern 1. Symmetric distal
weakness and sensory loss.
 Pattern 1. Symmetric distal
weakness & sensory loss.
- commonest pattern
- dying-back neuropathy
- majority are sensorimotor axonopathies
- usually have a subacute or insidious onset
- leading causes are DM & cryptogenic
- glucose-tolerance test, even if HbA1C normal
 Pattern 1. Symmetric distal
weakness & sensory loss.

LABS:
FBC, renal and liver function studies, TSH, B12,
folate, ESR, serum protein electrophoresis
(SPEP), HbA1C, glucose tolerance test.

NEUROPHYS:
Nerve conduction studies may be normal
Pattern 2. Symmetric proximal
and distal weakness with
sensory loss
Pattern 2. Symmetric proximal and
distal weakness with sensory loss.

Acute onset GBS (AIDP), (AMSAN; an axonal

form of GBS)

Subacute onset with CIDP

LP few cells, raised protein

If cells (>50): consider HIV, lyme, lymphoma,

leukemia
Pattern 2. Symmetric proximal and distal
weakness with sensory loss.
Treatment of AIDP is with IVIG or
plasmapheresis and supportive measures.

CIDP additionally can be treated with steroids

and other immunosuppresants

CIDP may be idiopathic or associated with

myeloma, other malignancies, or
dysproteinemias
Pattern 3. Neuropathies with
Significant Autonomic
Involvement.
 Pattern 3. Neuropathies with Significant
Autonomic Involvement.
Diabetes mellitus
Amyloidosis (familial and acquired)
Guillain-Barr syndrome
Porphyria
HIV
Vincristine
Idiopathic pandysautonomia
Pattern 4: Asymmetric distal
weakness without sensory
loss
 Pattern 4: Asymmetric distal
weakness with no sensory loss
MND most common cause
Typically associated UMN signs.

DDX: multifocal motor neuropathy (MMN)

MMN is a demyelinating motor neuropathy
MMN is treatable with IVIG
MMN is differentiated from MND by
nerve conduction studies
No UMN signs
Pattern 5: Asymmetric distal
weakness with sensory loss
Pattern 5: Asymmetric distal weakness with
sensory loss (mononeuropathy multiplex)

When two or more peripheral nerves are

involved in an asymmetric manner
Most cases are axonal
Vasculitic neuropathies such as
Polyarteritis nodosa (PAN)
Churg-Strauss
Rheumatoid arthritis (RA)
Systemic lupus erythematosus (SLE)
Wegeners granulomatosis
Pattern 5: Asymmetric distal weakness with
sensory loss (mononeuropathy multiplex)

Leprosy
Sarcoid
Lyme disease
AIDS
A multifocal variant of CIDP
Hereditary Neuropathy with Liability to Pressure
Palsies (HNPP)
Radiculopathy
 Pattern 6. Asymmetric proximal
and distal weakness with sensory
loss.
 Pattern 6. Asymmetric proximal and
distal weakness with sensory loss.

Poly-radiculopathy or plexopathy
Diabetes mellitus (e.g. diabetic amyotrophy).
Lepto-meningeal metastases
Brachial plexitis
Severe shoulder pain followed by weakness and
sensory loss in the affected arm
Lumbosacral plexitis
 Pattern 6. Plexopathy causes

Metabolic
Radiation
Trauma
Hemorrhage
Hereditary
Infectious
Space-occupying lesions
 Pattern 7. Symmetric or
asymmetric sensory ataxia with or
without weakness.
 Pattern 7. Symmetric or asymmetric
sensory ataxia with or without weakness.
Severe proprioceptive loss and complain of loss of
balance and incoordination.
Pathology is in the sensory dorsal root ganglion.
Paraneoplastic neuropathy
Sjogrens syndrome,
Pyridoxine (vitamine B6) toxicity,
Cisplatinum and
HIV-related sensory ganglionopathy
Neuropathy Algorithm
 Myopathy
A disorder of muscle

Metabolic
Infective
Inflammatory
Inherited
Related to malignancy
 Symptoms
Weakness

Generally proximal but not invariable

Difficulty getting out of a low chair

Difficulty going up stairs

Hanging out washing, brushing hair

 Symptoms
May be weakness of swallowing

Respiratory compromise

Temporal course

Other features
 Signs
General physical exam important

Skin joints cardiac other neuro features

Proximal weakness

Wasting diminished reflexes

 A case of dermatomyositis
Acquired

Inflammatory

Characteristic cutaneous manifestations

 Symptoms
Proximal muscle weakness

Progressive over weeks to months

Dysphagia

dysphonia
Cutaneous manifestations
Periorbital heliotrope rash

Gottrons papules

Malar erythema

Poikiloderma

Nailfold changes
Dermatomyositis
Dermatomyositis
 Systemic manifestations

Raynauds Pulmonary disease

Arthralgia Cardiac disease

Oesophaeal disease Calcinosis

 Associations

Malignancy in 20 25%

More common in older

 Investigations of Myopathy
CK Genetic testing

EMG PFTs

Muscle biopsy Autoimmune screen/

ESR
ECG/Echo/Holter
CXR
AChR antibody test
Becker Muscular Dystrophy
Miyoshi Myopathy
FSHD
FSHD
IBM
IBM
Action myotonia
Percussion myotonia