neuromuscular disease l.
Download
Skip this Video
Loading SlideShow in 5 Seconds..
Neuromuscular Disease PowerPoint Presentation
Download Presentation
Neuromuscular Disease

Loading in 2 Seconds...

play fullscreen
1 / 29

Neuromuscular Disease - PowerPoint PPT Presentation


  • 443 Views
  • Uploaded on

Neuromuscular Disease. Stacy Rudnicki, MD Department of Neurology. Disorders of the Motor Unit. Motor neuron disease Peripheral nerve disorders Neuromuscular junction disease Muscle disease. Motor Neuron Disease.

loader
I am the owner, or an agent authorized to act on behalf of the owner, of the copyrighted work described.
capcha
Download Presentation

PowerPoint Slideshow about 'Neuromuscular Disease' - Mia_John


An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.


- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -
Presentation Transcript
neuromuscular disease

Neuromuscular Disease

Stacy Rudnicki, MD

Department of Neurology

disorders of the motor unit
Disorders of the Motor Unit
  • Motor neuron disease
  • Peripheral nerve disorders
  • Neuromuscular junction disease
  • Muscle disease
motor neuron disease
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
slide4
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
slide5
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
peripheral nerve disorders
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
polyneuropathies
Polyneuropathies
  • Can affect different types of fibers
    • Autonomic
    • Motor
    • Sensory
      • Large well myelinated
      • Small poorly myelinated or unmyelinated
symptoms of a polyneuropathy
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 I’m walking with thick socks on”
polyneuropathy symptoms cont
Polyneuropathy Symptoms, cont
  • Motor
    • Weakness first in feet
      • Tripping
      • Turn ankles
    • Progress to weakness in hands
      • Trouble opening jars
      • Trouble turning key in lock
polyneuropathy signs
Polyneuropathy: Signs
  • Distal sensory loss
    • Large fiber
    • Small fiber
  • Distal weakness and atrophy
  • Decreased or absent reflexes
    • Ankle jerks lost first
classification of polyneuropathies
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
acute polyneuropathies
Acute Polyneuropathies
  • Guillain Barre Syndrome
  • Porphyria
    • Neuropathy, psychiatric disorder, unexplained GI complaints
  • Toxins
    • Glue sniffing (n-hexane)
    • Arsenic
guillain barre syndrome
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
guillain barre syndrome cont
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
subacute polyneuropathies
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
chronic polyneuropathies
Chronic Polyneuropathies
  • Metabolic
    • Diabetes mellitus
    • Chronic renal failure
    • Chronic liver failure
    • Thyroid disease
  • Nutritional
    • B12 deficiency
  • Infections
    • HIV
    • Leprosy
  • Inherited
evaluation of a polyneuropathy
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
slide19
NMJ
  • Pre-synaptic
    • Lambert Eaton myasthenic syndrome
    • Botulism
  • Post-synaptic
    • Myasthenia Gravis
myasthenia gravis
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
clinical manifestation of mg
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
approach to treating mg
Approach to treating MG
  • Remove any exacerbating factors
    • Infections, medication, endocrine disease
  • Acetylcholinesterase inhibitors
  • Plasma exchange/ intravenous immunoglobulin
  • Thymectomy
  • Immunosuppressants
    • Prednisone
    • Imuran (azathioprin)
clinical manifestations of myopathies
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
classification of muscle disease
Classification of Muscle Disease
  • Dystrophies
    • Duchenne’s Muscular Dystrophy
    • Myotonic Dystrophy
  • Congenital Myopathies
    • Glycogenoses
    • Mitochondrial
  • Acquired Myopathies
    • Polymyositis
    • Dermatomyositis
    • Inclusion body myositis
    • Drug related
duchenne s muscular dystrophy
Duchenne’s 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 < 20 years with death related to respiratory failure or cardiomyopathy
polymyositis
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
evaluation of the patient with suspected muscle disease
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
      • Duchenne’s
      • Myotonic dystrophy
  • EMG/NCS
  • Muscle biopsy
      • May provide a definitive diagnosis
slide29
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

Prox>distal absent

MG UE>LE yes Normal or dec Normal

+/-prox>distal

Myopathy Prox>distal occ Normal or dec Normal