This ppt is an overview of Neuropathies and myopathies..and from the physiologist view..hope will be useful template!

1. Neuropathies & Myopathies
Dr. Dinesh T,
11/19/2011 Jipmer physiologist
Junior resident 1

2. Neuropathies
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3. Definition
Damage to nerves which may be caused
either by diseases or trauma to the nerve or
as a component of systemic illness
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4. • The neuropathy is a symptom of another
disorder
• In most common forms of polyneuropathy, the
nerve fibers most distant from the brain and the
spinal cord malfunction first.
• Pain and other symptoms often appear
symmetrically
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5. • The peripheral nerves include:
Cranial nerves
(with the exception of the second)
Spinal nerve roots
Dorsal root ganglia
Peripheral nerve trunks and their terminal
branches
Peripheral autonomic nervous system
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6. Symptoms in neuropathy
A wide array of symptoms
can occur when nerves are
damaged
o Paresthesia
o Sensitivity to touch,
 Positive
Pins and needles
Tingling
Burning
Negative
Numbness
Deadness
As if wearing shocks and
walk
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7. In chronic course symptoms worse, muscle
wasting, paralysis, or gland dysfunction
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8. Neuropathy - Signs
• Distal sensory loss
• Distal weakness and
atrophy
• Decreased or absent
reflexes
– Ankle jerks lost first
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9. Various classifications
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10. Etiological Classification of neuropathies
Hereditary Neuropathies • Acquired metabolic and toxic
– Hereditary motor and sensory neuropathies
neuropathy – type I – Peripheral neuropathy in adult
– HMSN – Type II onset Diabetes
– Dejerine – Sottas Neuropathy – Metabolic and nutritional
HMSN- type III peripheral neuropathies
– HSMN – type IV – Neuropathies associated with
malignancy
– HSMN – type V
– Toxic neuropathies
• Traumatic neuropathies
Inflammatory neuropathies
• Immune mediated
o Guillain-Barré syndrome
o Chronic inflammatory demyelinating
polyradiculoneuropathy
• Infectious
– Leprosy
– Diphtheria
– Varicella – zoster
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11. Medications Causing Neuropathies
o Axonal o Demyelinating
Amiodarone
Vincristine Chloroquine
Paclitaxel Suramin
Nitrous oxide Gold
Colchicine
Isoniazid
Hydralazine o Neuronopathy
Metronidazole Thalidomide
Pyridoxine Cisplatin
Didanosine
Lithium Pyridoxine
Alfa interferon
Dapsone
Phenytoin
Cimetidine
Disulfiram
Chloroquine
Ethambutol
Amitriptyline
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12. Pathophysiological classification
• Motor , sensory, or autonomic
• Mononeuropathy , polyneuropathy or
mononueritis multiplex
• Focal, multifocal or symmetric
• Proximal or distal
• Axonal, demyelinating or both
• Acute, sub acute or chronic
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13. • Some neuropathies may affect all three
types of nerves, others primarily affect one
or two types.
• Predominately motor neuropathy
• Predominately sensory neuropathy
• Sensory-motor neuropathy
• Autonomic neuropathy
• Impaired function and symptoms depend
on the type of nerves that are damaged.
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14. • Mononeuropathy involve damage to only one
nerve
• When multiple nerves supplying one limb are
affected-called polyneuropathy.
• Two or more isolated nerves in separate areas
of the body are affected-called mononeuritis
multiplex
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15. o Focal neuropathies include common
compressive neuropathies such as carpal
tunnel syndrome, ulnar neuropathy ,peroneal
neuropathy
o Multifocal neuropathy suggests a
mononeuritis multiplex that may be
caused, for example, by vasculitis or diabetes
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16. Axonal degeneration
• Primary destruction of the axon with secondary
degeneration of its myelin sheath
• Generalized abnormality in the neuron cell body-
neuronopathy
• Abnormality in the axon - axonapathy
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17. Segmental demyelination
Dysfucntion of Schwann cell or damage to the myelin sheath
Denuded axon provide signal for remyelination
Precursor cells within endoneurium replace injured cells
Cells proliferate and engulf axon.= remyelination in time
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18. Neurophysiological classification
• Uniform demyelinating sensorimotor poly neuropathy
• Segmental demyelinating, motor more than sensory
neuropathy
• Axonal , motor more than sensory polyneuropathy
• Axonal sensory polyneuropathy
• Axonal mixed sensorimotor polyneuropathy
• Mixed axonal and demyelinating sensorimotor
polyneuropathy
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19. Uniform demyelinating sensorimotor
poly neuropathy
• Hereditary motor sensory neuropathy- type
I, III,IV
• Leucodystrophies
• Tangier disease
• Cockayne syndrome
• Congenital cerebrotendinous xanthomatosis
• Congenital hypomyelinating neuropathies
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20. HMSN I (Charcot- Marie- Tooth I)
• HSMN I – AD is the most common hereditary
neuropathy.
• CMT-I A chromosome 17p11 , CMT-IB
chromosome 1q22 , CMT-IC
16p13, chromosome , CMT-IX chromosome
Xq13.1
• Slowly progressive distal weakness
• Foot deformity, areflexia , distal sensory loss
• Upper limb ataxia, tremor, peripheral n
hypertrophy
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21. Neurophysiological features
• Conduction velocity less than 25% of lower limit
• Median motor forearm conduction< 38 m/s
• Uniform NCV changes in adjacent nerves
• Absence of conduction block and temporal
dispersion
• F response
• Needle EMG shows minimal fibrillations in distal
muscles.
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22. Uniform demyelinating sensorimotor
poly neuropathy-
Electrophysiological studies ( NCS ) show
o Uniform slowing of NCV
o Similar NCV slowing in adjacent nerves
o Absence of conduction block and temporal
dispersion
o Prolongation of F response commensurate with
NCV slowing
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23. Segmental demyelinating motor more
than sensory neuropathy
o Acute inflammatory demyelinating poly radiculo
neuropathy AIDP
o Chronic inflammatory demyelinating poly
radiculo neuropathy CIDP
o Multifocal motor neuropathy
o Paraproteinemia
o HIV neuropathy
o Lyme disease
o Diphtheria
o Penicillamine
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24. AIDP
o The prototype
o Distal paresthesia with symmetric weakness
o Distal areflexia
o Variants are pure motor, pure
sensory, autonomic, relapsing, and Miller fisher types
o Cranial nerves esp facial n and bulbar may be involved
o Respiratory muscles are severely involved in about 25
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25. 11/19/2011 Jipmer physiologist 25

26. Pathophysiology of GBS
• Pathological findings include inflammatory and
demyelinating changes.
• Monocytes and macrophages appear to attack myelin
sheaths.
• Myelinated fibers show segmental demyelination during
the first few days. Segmental remyelination occurs
subsequently.
• The lesions have a perivenular distribution
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27. Chronic inflammatory demyelinating
polyneuropathy
• Chronic progressive or relapsing neuropathy, motor >
sensory.
• Electrophysiology: slow conduction velocity & conduction
block
• Pathology: segmental demyelination and
remyelination, onion bulbs, fibrosis and little or no
lymphocytic infiltration of tissue.
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28. Segmental demyelinating motor more
than sensory neuropathy
Nerve conduction studies
o Slowing of motor and sensory conduction
velocity
o Prolongation of terminal latency
o Conduction block
o Dispersion and prolonged or absent F waves
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29. Axonal, motor more than sensory
neuropathy
• Axonal type of GBS
• Acute intermittent porphyria
• HSMN type II , V
• Toxic neuropathies such as lead, dapsone
• Paraneoplastic syndrome
• Metabolic – hypoglycemia
• Critical care neuropathy
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30. • Distal symmetric weakness and wasting
with minimal sensory loss
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31. Axonal,motor more than sensory
neuropathy
• Nerve conduction studies
• Reduced CMAP amplitude
• NCV is normal
• SNAP amplitudes are also decreased
• Fibrillations appear in distal muscles
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32. Sensory axonal polyneuropathy
• Diabetic neuropathy
• Carcinomatous sensory neuropathy
• HSMN type I- IV
• Friedrich ataxia
• Abetalipoproteinemia
• Toxins - cisplatin
• Pyridoxine overdosage
• Vt –E neuropathy
• Malabsorption
• Acromegaly,
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33. Diabetic neuropathy
• Onset of neuropathy depends upon the duration
of illness
• 50% diabetics have peripheral neuropathy of
which 80% have had the illness for >15 years
• Distal symmetric sensory or
sensorimotor, autonomic, focal or multifocal
asymmetric
• Symmetric neuropathy involves distal sensory
, motor nerves .
• Decreased sensation, loss of pain sensation –
ulcer
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34. Diabetic neuropathy
• Predominant pathology is axonal neuropathy.
• In chronic cases segmental demyelination also
seen
Pathophysiology –
• Loss of small myelinated fibers and unmyelinated
fibers. But large fibers can also be affected.
• Endoneurial arterioles show
thickening, hyalination, intense PAS positivity in
the walls and extrensive reduplication basement
membrane
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35. Sensory axonal polyneuropathy
• Nerve conduction studies
• Diminished or absent SNAP amplitude in
the setting of normal motor nerve
conduction velocity
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36. Axonal type of mixed sensorimotor
neuropathy
• Nutritional deficiencies (vitamin deficincy,
alcoholism)
• Metabolic ( diabetic, uraemia, liver disease,
amyloidosis)
• Connective tissue disorders (rheumatoid arthritis,
SLE, PAN)
• Multiple myeloma
• Carcinoma
• Cryoglobunemia
• Heavy metals – lead, arsenic, gold, mercury
• Drugs- metronidazole, phenytoin etc
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37. • Paresthesia and dyesthesia of feet and
distal legs
• Wasting is marked
• Loss of ankle reflex
• Pathophysiology – evidence of
degeneration of distal portion of axons
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38. Axonal type of mixed sensorimotor
neuropathy
Nerve conduction studies
• Reduced or absent SNAP
• CMAP amplitude decreases and motor
conduction velocity also decrease in later
stage
EMG
• Fibrillations and positive sharp waves are
prominent in distal muscles.
• Temporal dispersion on proximal stimulation
is not found as in demyelinating neuropathies
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39. Mixed axonal loss and demyelinating
neuropathy
• Diabetes
• Uremia
• Paraproteinemia
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40. • Paresthesia, dyesthesia or numbness
• Reduced vibration and two point
discrimination
• Pathophysiology – segmental
demyelination and remyelination along
with axonal degeneration
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41. Mixed axonal loss and
demyelinating neuropathy
• Nerve conduction studies
• Reduced or unrecordable CMAP, SNAP or
both
• Moderate to severe slowing of NCV with
temporal dispersion of CMAP
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42. Clinical examination
• Thorough history and physical examination is
needed.
• Cranial nerve examination
• Motor , sensory, autonomic nervous system
examination
• Fundus examination
• Lymphadenopathy , hepatomegaly or
splenomegaly, and skin lesions
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43. Lab tests:
• CBC, electrolytes, ESR
• Fasting serum glucose, glycosylated
hemoglobin, blood urea nitrogen, creatinine,
• Liver , kidney,, thyroid function studies
• Inflammatory markers,
• Total protein level
• Vit D, B12,
• Cytology
• CSF
• Urinalysis
• Nerve biopsy
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44. Electrophysiologic studies
• EMG and nerve conduction studies (NCS) are often the
most useful initial laboratory studies in the evaluation of
a patient with peripheral neuropathy
• Confirm the presence of a neuropathy
• Provide information as to the type of fibers involved
(motor, sensory, or both), the pathophysiology (axonal
loss versus demyelination) and a symmetric versus
asymmetric or multifocal pattern of involvement.
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45. Electrophysiologic studies
• The limitations of EMG/NCS.
– There is no reliable means of studying proximal
sensory nerves.
– NCS results can be normal in patients with small-fiber
neuropathies
– Lower extremity sensory responses can be absent in
normal elderly patients.
• EMG/NCS are not substitutes for a good clinical
examination.
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46. Treatment
• The goal of treatment is to manage the
underlying condition causing the neuropathy and
repair damage, as well as provide symptom
relief.
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47. Treatment
• Medical management
– Analgesics .
– antiepileptic drugs, including
gabapentin, phenytoin, and carbamazepine
– some classes of antidepressants, including tricyclics
such as amitriptyline.
– Mexiletine
– local anesthetics such as lidocaine or topical patches
containing lidocaine
– Codeine/oxycodone
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48. Treatment
• Mechanical aids can help reduce pain and lessen the
impact of physical disability.
– Hand or foot braces can compensate for muscle weakness or
alleviate nerve compression.
– Orthopedic shoes can improve gait disturbances and help
prevent foot injuries in people with a loss of pain sensation.
• If breathing becomes severely impaired, mechanical
ventilation can provide essential life support.
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49. Treatment
• Surgical intervention often can provide
immediate relief from mononeuropathies caused
by compression or entrapment injuries.
– Repair of a slipped disk can reduce pressure on
nerves where they emerge from the spinal cord; the
removal of benign or malignant tumors can also
alleviate damaging pressure on nerves.
– Nerve entrapment often can be corrected by the
surgical release of ligaments or tendons.
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50. Myopathies
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51. Definition
Neuromuscular disorders in which the
primary symptom is muscle weakness due to
dysfunction of muscle fiber
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52. Introduction
• Worldwide incidence of all inheritable
myopathies is about 14%
• Overall incidence of muscular dystrophy is about
63 per 1 million.
• Worldwide incidence of inflammatory
myopathies is about 5–10 per 100,000 people.
More common in women
• Corticosteroid myopathy is the most common
endocrine myopathy and endocrine disorders
are more common in women
• Incidence of metabolic myopathies – increasing
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53. Myopathy: symptoms
• Muscle pain and fatigue; exercise
intolerance
• Proximal and symmetric weakness
– Waddling gait; difficulty of rising from
sitting, climbing stairs; Gower’s sign
– Hyperextension of the knee
– Increased lordosis of the lumbar
spine, scoliosis
– Contractures, tight Achilles tendons
• Myopathic face
• Muscle atrophy; pseudohypertrophy
• Myotonia
• Tendon reflexes are normal or
depressed
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54. Clinical examination
• Thorough clinical
examination!
• Observation – look for muscle
atrophy, deformities
• Strength testing
• Functional testing
– Stand up from a chair
– Walk
– Step up on a low stool
• REFLEXES and SENSATION
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55. Types of muscle diseases
• Hereditary muscle diseases
– Denervation atrophy
– Muscle dystrophies
– Muscle channelopathies
– Mitochondrial myopathies
– Metabolic myopathies
• Acquired muscle diseases
– Inflammatory myopathies
– Endocrine and toxic myopathies
– Infectious muscle diseases
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56. Myopathic Disorders
• Inflammatory Myopathies • Congenital myopathies
– Polymyositis – Central core disease
– Dermatomyositis – Nemaline myopathy
– Inclusion body myositis – Myotubular
– Viral – Fiber-type disproportion
• Muscular dystrophies • Metabolic myopathies
– Duchenne muscular – Glycogenoses
– Limb-girdle – Mitochondrial
– Congenital – Periodic paralysis
– Fasioscapulohumeral • Endocrine myopathies
– Oculopharyngeal – Thyroid
– Emery – Dreifuss – Parathyroid
– Distal (Welander) – Adrenal/steroid
• Myotonic Syndromes – Pituitary
– Myotonic dystrophy • Drug-induced/toxic
– Inherited
– Schwarz-Jampel
– Drug-induced
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57. Diagnostic histological features
of myopathies
• Absence of neurogenic abnormalities
• Necrotic muscle fibers
• Basophilic (regenerating) myofibers
• Fibrosis of the endomysium
• Special pathological features (inflammatory
cells, ragged red fibers etc.)
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58. Muscle dystrophies
• Hereditary myopathies, characterized by
progressive weakness and muscle atrophy
• Genetic defect of proteins constituting the
sarcolemma-associated cytoskeleton
system
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59. Duchenne muscular dystrophy
• First described in 1881- dystrophin gene
discovered in the early 1980's
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60. Duchenne muscular dystrophy
• X-chromosome linked, recessive inheritance
• 1 in 3500 live births,
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61. Clinical features
• Onset of weakness before age 5
• Progressive
weakness, proximal>distal, and muscle
wasting
• Gower’s sign
• Hypertrophy of calves,
• psuedohypertrophy of deltoid, gluteal
• Skeletal deformities
• Cardiomyopathy
• wheel chair dependence by the age of
12, respiratory infection at 16-18 years.
Fatal in the third decade
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62. Electrophysiology
• EMG changes – rate of muscle fiber destruction
and extent of regeneration.
• Fiber loss-Low amplitude short duration MUPs,
• Fiber degeneration- polyphasic MUPs
• Necrosis - fibrillations with low amplitude and
short duration
• Nerve conduction studies – generally normal
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63. • Elevated CPK levels to 20 to 100 folds
• Variation in size and shape of muscle fibers and
small groups of necrotic and regenerating fibers-
muscle biopsy.
• Absence of dystrophin gene in biopsied muscles
or genetic defect analysis in WBCs
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64. Management
• No specific treatment
• Physiotherapy
• Aerobic exercise
• Low intensity anabolic steroids
• Prednisone supplements
• Orthoses (orthopaedic appliances used for
support)
• Orthopaedic surgery
• Critical care
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65. Beckers muscular dystrophy
• Allelic defect in DMD gene.
• 10 times less frequent than DMD
• Better prognosis. Patient lives upto 40-50 years.
• Mental retardation and heart failure can occur
• Muscle biopsy – variable muscle fiber size with
aberrant large fibers. Endomysial fibrosis and
fatty infiltration
• Patchy staining of DMD gene
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66. Gene Clinical feature Pathophysiology
Fascioscapulohumeral MD - AD FSHMD1B ge Progressive muscular
weakness and atrophy
Dystrophic myopathy with
inflammatory infiltrates
involving the face,
scapular, proximal arm
and peroneal muscles
myopathic face,
Oculopharyngeal MD - AD PABP2 Ptosis and extra ocular Dystrophic myopathy incl
muscle weakness rimmed vacuoles
Emery – Dreifuss MD – X - linked EMD, LMNA Triad of early Mild myopathic changes.
contracture, humero- Absent emerin by
peroneal weakness and immunohistochemistry
cardiac conduction
defects
Congenital –MD AR Laminin Neonatal hypotonia , Variable fiber size and
alpha 2 muscle weakness extensive endomysial
fibrosis
Congenital –MD – Fukuyama type AR Fukutin Neonatal hypotonia and Variable fiber size and
MR extensive endomysial
fibrosis. CNS
malformation
Congenital –MD Protein o Neonatal hypotonia and Variable fiber size and
Walker – warnburg type mannosyl MR, ocular malformation extensive endomysial
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transferase 66
fibrosis. CNS, ocular
malformation

67. Gene Clinical feature Pathophysiology
Limb-girdle dystrophies
Sarcoglycanopathies AR
α, β, γ, δ
sarcoglyc
ge
Starts between 2 and 20
years
Normal dystrophin
immunostaining,
Α, β, γ, δ sarcoglycans ans Clinically indistinguishable abnormal
from duchenne-dystrophy immunostaining with
No cardiac involvement sarcoglycans
, Genetic defect
analysis
Myotonic dystrophy AD CTG repeat •Myotonia: hyperexcitability Muscle biopsy showing
expansion in a of muscle membrane mild myopathic changes
gene on chr. 19 inability of quick muscle and grouping of atrophic
relaxation fast fibres
•Progressive muscular
weakness and wasting,
most prominent in cranial
and distal muscles
•Cataracts, frontal balding,
testicular atrophy
•Cardiac abnormalities,
mental retardation
Myotonia congenita AD, AR Mucle cl gene Myotonia (hyperexcitability
Autosomal of the muscle membrane):
dominant form: muscle stiffness and
Thomsen, abnormal muscle
autosomal relaxation, warm-up
recessive form: phenomenon
11/19/2011 Becker Hypertrophied muscles
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68. Inflammatory myopathies
PATHOPHYSIOLOGY
• Polymyositis and inclusion body myositis (IBM)
have autoaggressive CD8 lymphocytes that
appear to attack myofibers and suggest an
autoimmune role.
• However,a major question exists about the
etiology of IBM.
• Dermatomyositis is thought to be caused by auto
antibodies, possibly targeting an antigen of the
endothelium. Fiber injury may be caused by
ischemia.
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69. Dermatomyositis Polymyositis Incusion body myositis
Sub acute progressive Sub acute progressive Slowly progressive
weakness weakness weakness,
proximal>distal proximal>distal proximal and distal.
Children and adults, women adults, women adults, mostly men
Characteristic rash and
periorbital heliotrope.
Electromyogram myopathic potentials, myopathic potentials,
myopathic spontaneous spontaneous
potentials, spontaneous activity
Elevated serum creatine Elevated serum creatine Mildly elevated serum
kinase activity. kinase activity creatine kinase or normal.
inflammatory myopathy inflammatory myopathy : inflammatory myopathy
affecting chiefly the endomysium affecting
chiefly the perimysium with
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70. Polymyositis Inclusion body myositis Dermatomyositis
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71. Congenital myopathies
• Group of muscle disorders
• Early onset
• Slowly progressive
• Hereditary
• Generalised or proximal weakness and wasting
• Hypotonia
• Contractures
• Normally or mildly elevated CPK
• Normal or myopathic EMG
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72. Congenital Central core disease Nemaline Myotubular
myopathies myopathy myopathy
Inheritence AD AD , AR XL, AD, AR
Gene RYR- 1 gene AD –NEM1 -TMP3 XL – MTM1
AR- NEM2 - NEB AD – DNM2
AR- NEM3 - ACTA AR – BIN1
AR- NEM4 – TMP2
AR- NEM5 -
TNNT1
AR- NEM7 - CFL2
Clinical features Early onset hypotonia Chilhood weakness Severe congenital
and weakness . .variable hypotonia. Floppy
Floppy infant . presentation. infant .poor
Associated skeletal Floppy infant prognosis
deformities
Pathophysiology Cytoplasmic cores Aggregates of Abundance of
are distinct from subsarcolemmal centrally located
surrounding spindle shaped rods nuclei involving the
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73. Distal myopathies
• Welander distal myopathy
• Miyoshi distal myopathy
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74. Metabolic myopathies
• Disorders of muscle energy metabolism
• Disorders of lipid metabolism
• Mitochontrial myopathies
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75. Mitochontrial myopathies
• Kearn – sayre syndrome
• Myoclonic – epilepsy with ragged red fibers
• Mitochontrial myopathy, lactic acidosis, stroke
• Mitochontrial myopathies with recurrent
myoglobunuria
• Mitochontrial DNA depletion syndrome
• Progressive external opthalmoplegia and ragged
red fibers
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76. Endocrine myopathies
• Thyrotoxic myopathies
• Cushing syndrome and steroid myopathy
• Myopathy associated with oarathyroid disorders.
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77. Toxic myopathies
• Myotonic disorders
• Necrotizing myopathies
• Acute muscle necrosis
• Mitochontrial myopathy
• Hypokalemic myopathy
• Inflammatory myopathy
• Autophagic myopathy
• Focal myopathy
• Envenomation myopathy
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78. Muscle channelopathies
Na Cl Ca
channelopathies channelopathies channelopathies
Hyperkalemic Myotonia Malignant
periodic paralysis congenita hyperthermia
(Thomsen and
Becker type)
Paramyotonia Hypokalemic
congenita periodic paralysis
Potassium
aggravated
myotonia
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79. Treatment
o There is no single treatment for myopathy.
o Treatment of the symptoms to specific cause-
targeting treatments.
o Drug therapy
o Physical therapy
o Bracing for support,
o Surgery
o Massage
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80. Care !….the best rehabilitation method
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