Introduction of neuromuscular disorders
13 important questions on Introduction of neuromuscular disorders
What are neuromuscular disorders?
What are the components of the peripheral nervous system?
2. Nerve roots, plexuses, peripheral nerves
3. Neuromuscular junction
4. Muscle + skin sensory receptors
What is a plexus?
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What are general symptoms of neuromuscular disorders?
2. Delayed motor milestones during development
3. Hypotonia (e.g. floppy infant)
4. Gowers maneuver
5. Low or absent muscle stretch reflex
6. Muscle atrophy
7. Diminished cutaneous sensation (hypesthesia)
8. Contractures
7. Myopathic facies
8. Calf hypertrophy
Describe spinal muscular atrophy
Pathophysiology: loss of motor neurons and progressive muscle wasting.
Cause: loss of SMN1-gene
SMA type 1: never sits, usually death < 2 years old
SMA type 2: never walks
SMA type 3: loss of ambulation late teens
Describe amyotophic lateral sclerosis
Pathophysiology: loss of motor neurons in spinal cord, brain stem and motor cortex
Cause: unknown, multifactorial
Describe hernia nuclei pulposi
Cause: the intervertebral disc bulges out and compresses the nerve root
- Motor and sensory signs
- Numbness, tingling, paresthesia, and motor changes such as muscular weakness, paralysis and affection of reflexes
Describe Guillain Barre syndrome
Pathophysiology: auto-immune disorder where myelin and sometimes the axon are attacked by the immune-system.
- Ascending weakness of legs, arms en respiratory muscles
- Pain and dysesthesia in hands, legs and facial area
- Bladder dysfuction, blood pressure instability
(Incomplete) recovery within 2 years.
Describe neuralgic amyotrophy
Pathophysiology: auto-immune disorder which affects the brachial or lumbosacral plexus.
- Rapid atrophy and paresis
- Periscapular paresis leads to impaired biomechanics of shoulder joint
Partial recovery in months-years.
Describe carpal tunnel syndrome
Cause: median nerve entrapment at the carpal tunnel
- pain and tingling in dig. I-III of the hand
- weakness of thumb abduction
- when severe: atrophy of thenar eminence
Treatment:
- steroids
- surgical procedure
Describe myasthenia gravis
Pathophysiology: antibodies agains post-synaptic receptors
- weakness
- generalized or oculobulbar
Treatement:
- acetylcholine exterase inhibitors
- steroids of other immune-modulation
Describe duchenne muscular dystrophy
Pathophysiology: Genetic defect on X-chromosome causes loss of functional dystrophin protein
- Generalized progressive muscle weakness
- First symptoms at age 3, wheelchair dependent age 10, ventilation dependent age 20
Describe different steps of neuromuscular disease diagnostics
2. Physical examination
3. Blood testing
4. Cerebrospinal fluid testing
5. Urine testing
6. Electrodiagnosis: nerve conduction studies and needle electromyography
7. Muscle imaging
8. Histology
9. Genetics/DNA
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