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Neuromuscular Disease

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Start in feet, move proximally. Hand sxs appear when LE sxs up to knees. Positive ... Weakness first in feet. Tripping. Turn ankles. Progress to weakness in ... – PowerPoint PPT presentation

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Title: Neuromuscular Disease


1
Neuromuscular Disease
  • Stacy Rudnicki, MD
  • Department of Neurology

2
Disorders of the Motor Unit
  • Motor neuron disease
  • Peripheral nerve disorders
  • Neuromuscular junction disease
  • Muscle disease

3
Motor Neuron Disease
  • Diseases that can involve Betz cells of the motor
    cortex, the lower CN motor nuclei, the CST,
    and/or the anterior horn cells
  • Amyotrophic Lateral Sclerosis (ALS)
  • Progressive bulbar palsy
  • Progressive muscular atrophy, spinal muscular
    atrophy
  • Primary lateral sclerosis

4
ALS
  • Loss of motor neurons in the cortex, brainstem
    and spinal cord
  • Mix of upper motor neuron and lower motor neuron
    findings
  • Weakness, atrophy, fasciculations
  • Slurred speech, difficulty swallowing, shortness
    of breath
  • Can start in any extremity or the bulbar
    musculature
  • Relentlessly progressive

5
ALS
  • 50 dead in 3 years, 80 dead in 5 years, 5-10
    live more than 10 years
  • Death usually from respiratory failure
  • Etiology still only theoretical
  • Excess glutamate
  • Oxidative stress
  • Free radicals
  • Mitochondrial dysfunction

6
Peripheral Nerve Disorders
  • Mononeuropathy
  • Pattern of weakness and sensory loss conforms to
    the distribution of a single nerve
  • Carpal tunnel syndrome
  • Peroneal palsy at the fibular head
  • Mononeuritis multiplex
  • Multiple nerves affected in a random pattern
  • Acute onset, frequently painful
  • Diabetes mellitus, vasculitis
  • Polyneuropathy (peripheral neuropathy)
  • Distal, symmetric

7
Polyneuropathies
  • Can affect different types of fibers
  • Autonomic
  • Motor
  • Sensory
  • Large well myelinated
  • Small poorly myelinated or unmyelinated

8
Symptoms of a Polyneuropathy
  • Sensory symptoms
  • Start in feet, move proximally
  • Hand sxs appear when LE sxs up to knees
  • Positive
  • Pins and needles
  • Tingling
  • Burning
  • Negative
  • Numbness
  • Deadness
  • Like Im walking with thick socks on

9
Polyneuropathy Symptoms, cont
  • Motor
  • Weakness first in feet
  • Tripping
  • Turn ankles
  • Progress to weakness in hands
  • Trouble opening jars
  • Trouble turning key in lock

10
Polyneuropathy Signs
  • Distal sensory loss
  • Large fiber
  • Small fiber
  • Distal weakness and atrophy
  • Decreased or absent reflexes
  • Ankle jerks lost first

11
Classification of Polyneuropathies
  • By types of fibers involved
  • Pure sensory
  • Sensory motor
  • Pure motor
  • Autonomic
  • By pathology
  • Demyelinating
  • Axonal
  • Mixed
  • By tempo
  • Acute
  • Subacute
  • Chronic

12
Acute Polyneuropathies
  • Guillain Barre Syndrome
  • Porphyria
  • Neuropathy, psychiatric disorder, unexplained GI
    complaints
  • Toxins
  • Glue sniffing (n-hexane)
  • Arsenic

13
Guillain Barre Syndrome
  • Most common cause of rapidly progressive weakness
  • Demyelinating neuropathy
  • Ascending weakness which may include cranial
    neuropathies
  • Exam reveals symmetric weakness with areflexia
    and large fiber sensory loss
  • Bowel and bladder usually preserved

14
Guillain Barre Syndrome, cont
  • Respiratory failure can be precipitous
  • Other causes of morbidity and mortality
  • Autonomic instability
  • DVT
  • Infection
  • Immune mediated, may be post infectious
  • Treatment
  • Plasma exchange
  • Intravenous immunoglobulin

15
Subacute Polyneuropathies
  • Vasculitis
  • Can be isolated to peripheral nerves or part of a
    more systemic process
  • Paraneoplastic
  • May be presenting symptom of the cancer
  • Chronic inflammatory demyelinating polyneuropathy
  • With or without a gammopathy
  • Toxins
  • Drug

16
Chronic Polyneuropathies
  • Metabolic
  • Diabetes mellitus
  • Chronic renal failure
  • Chronic liver failure
  • Thyroid disease
  • Nutritional
  • B12 deficiency
  • Infections
  • HIV
  • Leprosy
  • Inherited

17
Evaluation of a Polyneuropathy
  • Lab work
  • Nerve conduction study/electromyography
  • Distinguishes between axonal and demyelinating
  • Helps ascertain severity
  • Nerve biopsy
  • Frequently non-diagnostic
  • Can establish the dx in certain disorders, such
    as vasculitis and amyloidosis

18
Disorders of the Neuromuscular Junction
19
NMJ
  • Pre-synaptic
  • Lambert Eaton myasthenic syndrome
  • Botulism
  • Post-synaptic
  • Myasthenia Gravis

20
Myasthenia Gravis
  • Antibody that alters the acetylcholine receptor
  • Binding
  • Blocking
  • Modulating
  • Antibody detected in
  • 50 of pts with pure ocular MG
  • 90-95 of pts with generalized MG

21
Clinical Manifestation of MG
  • Sxs worsen with exercise, end of day (Fatigue)
  • Ocular
  • Droopy eyelids (ptosis)
  • Double vision (diplopia)
  • Extremity weakness
  • Arms legs
  • Bulbar
  • Dysarthria
  • Dysphagia
  • Respiratory
  • Shortness of breath

22
Approach to treating MG
  • Remove any exacerbating factors
  • Infections, medication, endocrine disease
  • Acetylcholinesterase inhibitors
  • Plasma exchange/ intravenous immunoglobulin
  • Thymectomy
  • Immunosuppressants
  • Prednisone
  • Imuran (azathioprin)

23
Myopathies
24
Clinical Manifestations of Myopathies
  • Proximal muscle weakness
  • Waddling gait
  • Difficulty climbing stairs
  • Trouble lifting arms over head
  • Cramps with the metabolic myopathies
  • Myalgias with the inflammatory myopathies
  • Swallowing and breathing difficulties, when
    present, are usually late

25
Classification of Muscle Disease
  • Dystrophies
  • Duchennes Muscular Dystrophy
  • Myotonic Dystrophy
  • Congenital Myopathies
  • Glycogenoses
  • Mitochondrial
  • Acquired Myopathies
  • Polymyositis
  • Dermatomyositis
  • Inclusion body myositis
  • Drug related

26
Duchennes Muscular Dystrophy
  • X-linked recessive
  • Absence of dystrophin protein
  • Slow to reach motor milestones, sxs by age 5
  • All walk, may never run
  • End up in wheelchair by age 10-12
  • Steroids may delay time until wheelchair bound
  • Muscles replaced by fat may appear hypertrophic
  • Frequently mildly mentally retarded
  • Life expectancy respiratory failure or cardiomyopathy

27
Polymyositis
  • Presents with proximal muscle weakness in 92
  • Myalgias in 25
  • Associated symptoms may include fever, weight
    loss
  • Slightly increased risk of cancer
  • Bladder, lung, lymphoma
  • Biopsy of muscle confirms diagnosis
  • Treatment with immunosuppression
  • Prednisone
  • Methotrexate

28
Evaluation of the Patient with Suspected Muscle
Disease
  • Lab
  • Muscle enzymes (CPK, aldolase)
  • Erythrocyte sedimentation rate (ESR or sed rate)
    if suspect inflammatory disease
  • Genetic test
  • Duchennes
  • Myotonic dystrophy
  • EMG/NCS
  • Muscle biopsy
  • May provide a definitive diagnosis

29
  • Extremity CN Reflexes Sensation
  • Weakness
  • ALS Random yes Increased Normal
  • Polyneuro- Distal rare Decreased Lost distally
  • pathy Proximal distally proximally
  • LEMS LE UE rare Decreased or Normal
  • Proxdistal absent
  • MG UELE yes Normal or dec Normal
  • /-proxdistal
  • Myopathy Proxdistal occ Normal or dec Normal
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