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Pathologies of Neuro > Muscle and nerve disease > Flashcards

Muscle and nerve disease Flashcards

1
Q

Which parts of the NS pathway can be affected?

A
  • Muscle
  • The Neuromuscular junction
  • The peripheral nerve
  • The Anterior horn cell
  • The Upper motor neurone
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2
Q

What happens at the level of the muscle

A

chemical energy converted into mechanical energy

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3
Q

Symptoms of muscle disease

A
  • Weakness of muscles
  • Shallow breathing (muscles of respiration)
  • Poor swallowing
  • Cardiomyopathy
  • Stiffness, cramping, pain, myoglobinuria (blood in urine due to break down of myoglobin)
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4
Q

Signs of muscle disease

A
  • Muscle wasting/hypertrophy
  • Normal or reduced tone
  • Normal or reduced reflexes
  • Motor weakness- Not sensory
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5
Q

Symptoms of muscle disease in babies

A
  • Poor sucking
  • Floopy
  • Inability to thrive
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6
Q

Investigation of muscle disease

A
  • Examination
  • Creatinine kinase
  • EMG: elctromyopgraphy- measures electrical activity in skeletal muscles
  • Muscle biopsy
  • Genetic testing
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7
Q

Congenital muscle disease examples

A
  • Structural: muscular dystrophies
  • Contractile: congenital myopathies
  • Coupling: channelopathies
  • Energy: Enzymes/ mitochondria
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8
Q

Acquired muscle disease

A
  • Metabolic
  • Endocrine
  • Inflammatory
  • Iatrogenic (medication)
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9
Q

What are muscle dystrophies

A

Disease which interferes with the contractile system of the muscle

  • Can be either in the young or the old
  • Progressive
  • Lead to cell degeneration
  • Genetic
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10
Q

Examples of muscle dystrophies

A
  • Duchenne’s
  • Beckers
  • Facioscapuhumeral
  • Myotonic dystrophy
  • Limb girdle MD
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11
Q

What are Channelopathies and how do they present?

A
  • Interfere with the movement of Calcium/ Sodium/ Potassium and Chloride
  • They present periodic paralysis
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12
Q

Examples of channelopathies

A
  • Familial hypotonic periodic paralysis ( All)
  • Paramyotonia congenital (Na)
  • Myotonia congenita (Cl)
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13
Q

What are Metabolic muscle disease

A

Diseases associated with the production of energy

  • Disorders associated with the breakdown of carbohydrates
  • Disorders associated with the breakdown of Fats
  • Mitochondrial myopathies/ cytopahties
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14
Q

Two types of metabolic muscle disease

A

Those which occur at rest and those which only occur during exercise

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15
Q

Inflammatory muscle disease examples

A
  • Polymyositis

- Dermamyositis: presents with characteristic rash

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16
Q

Investigation for inflammatory muscle disease

A

-HIGH CK
-EMG: indicated inflammation and myopathies
-BIOPSY:
In polymyotisis: CD8
In Dermomyositis: CD4, humeral- mediated and B cells

17
Q

Treatment for inflammatory muscle disease

A

Immunosuppresion

18
Q

Pathology of Myasthenia gravis

A

Cholinesterase prevents the Ach neurotransmitter from binding to the post synaptic membrane

19
Q

Symptoms of myasthenia gravis

A
  • Weakness of limbs
  • Weakness of eyelids (Proptosis)
  • Weakness of muscles of mastication
  • Weakness of GI muscle- problems talking (Slurred speech)
  • Weakness of muscles of respiration- SOB
  • Diplopia
20
Q

Investigation of myasthenia gravis

A
  • Ach Receptor antibodies
  • Anti muscarinic antibodies
  • Neurophysiology
  • CT of chest - may present with a thymoma
21
Q

Treatment for myasthenia gravis

A
  • For symptoms : Acetylcholineresterase inhibitor
  • Immunosuppression (predinosole)
  • Immunoglobulin/ plasma exchange
  • Thymectomy if presents with thymoma
22
Q

Where does the peripheral nerve form

A

where motor and sensosoru nerve fuse in the anterior root horn

23
Q

What type os axons can be affected?

A
  • Sensory
  • Motor
  • Autonomic
  • Nerve sheath
24
Q

Investigations with PND

A
  • Blood tests
  • Genetic analysis
  • Nerve conduction studies
  • Lumbar punture: for CSF analysis
  • Nerve biopsy (only done when severe or when severe treatment is about to be carried out)
25
Q

Types of PND

A
  • Root disease
  • Individual nerve
  • Generalised peripheral nerve neuropathy
26
Q

Signs and symptoms of root disease

A

-Myotomal wasting and weakness
-Change in reflexes
-Dermatomal sensory change
N.B. Myotomes are groups of muscle fibres which are all innervated by the same spinal nerve

27
Q

Signs and symptoms of individual nerve disease

A
  • Wasting and weakness of innervated muscles

- Specific Sensory changes

28
Q

Types of generalised peripheral neuropathy

A

Axonal or demyelinating

29
Q

Causes of generalised peripheral neuropathy?

A
  • Hereditary
  • Metabolic e.g. diabetes, B12, renal dysfunction
  • Toxic : drugs
  • Infectious: HIV, lyme, leprosy
  • Malignancy
  • Inflammatory demyelinating
  • when acute: Gullain bare syndrome (autoimmune attack)
  • when chronic: chronic inflammatory polyneuropathy]
30
Q

where do GND symptoms start and why?

A
  • Symptoms start distally and move proximally- therefore the longest nerves are the ones which are affected first
  • This because energy is generated in the nucleus and carried along the nerve
31
Q

What is the most common anterior horn disease

A

MND

amyotrophic lateral sclerosis

32
Q

Signs and symptoms of MND

A
  • Usually develops in the limbs, then moves to bulbar and then to respiratory
  • LMN: muscle weakness, muscle fasciculations, wasting
  • UMN: Increased tone, reflexes
  • No sensory involvement
  • In 10% cognitive decline
33
Q

Prognosis and diagnosis of MND

A

Prognosis

  • 3-5 years from onset of symptoms
  • 2-3 years from diagnosis
  • 50% die within 14 months of diagnosis

Diagnosis

  • Combination of UMN and LMN symptoms
  • EMG
34
Q

Treatment for MND

A
  • Supportive: Nasogastric feeding tube, Non-invasive ventilation, Physio, OT
  • Riluzole: used to slow down progression of disease
  • Palliative
35
Q

Types of MND and what they affect

A
  • ALS: affects the anterior horn and the motor cortex- affects LMN and UMN
  • BULBAR PALSY: affects cranial nerves IX to XII- affects speech
  • PERIPHERAL LATERAL SCLEROSIS: affects the motor cortex- so mainly affects UMN
  • ANTERIOR HORN CELL: affects the anterior horn- mainly LMN

Pathologies of Neuro (25 decks)

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