Muscle and nerve disease Flashcards by rebecca duff

Which parts of the NS pathway can be affected?

Muscle
The Neuromuscular junction
The peripheral nerve
The Anterior horn cell
The Upper motor neurone

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What happens at the level of the muscle

chemical energy converted into mechanical energy

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Symptoms of muscle disease

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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Signs of muscle disease

Muscle wasting/hypertrophy
Normal or reduced tone
Normal or reduced reflexes
Motor weakness- Not sensory

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Symptoms of muscle disease in babies

Poor sucking
Floopy
Inability to thrive

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Investigation of muscle disease

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

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Congenital muscle disease examples

Structural: muscular dystrophies
Contractile: congenital myopathies
Coupling: channelopathies
Energy: Enzymes/ mitochondria

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Acquired muscle disease

Metabolic
Endocrine
Inflammatory
Iatrogenic (medication)

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What are muscle dystrophies

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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Examples of muscle dystrophies

Duchenne’s
Beckers
Facioscapuhumeral
Myotonic dystrophy
Limb girdle MD

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What are Channelopathies and how do they present?

Interfere with the movement of Calcium/ Sodium/ Potassium and Chloride
They present periodic paralysis

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Examples of channelopathies

Familial hypotonic periodic paralysis ( All)
Paramyotonia congenital (Na)
Myotonia congenita (Cl)

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What are Metabolic muscle disease

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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Two types of metabolic muscle disease

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

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Inflammatory muscle disease examples

Polymyositis

- Dermamyositis: presents with characteristic rash

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Investigation for inflammatory muscle disease

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

Treatment for inflammatory muscle disease

Immunosuppresion

Pathology of Myasthenia gravis

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

Symptoms of myasthenia gravis

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

Investigation of myasthenia gravis

Ach Receptor antibodies
Anti muscarinic antibodies
Neurophysiology
CT of chest - may present with a thymoma

Treatment for myasthenia gravis

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

Where does the peripheral nerve form

where motor and sensosoru nerve fuse in the anterior root horn

What type os axons can be affected?

Sensory
Motor
Autonomic
Nerve sheath

Investigations with PND

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)

Types of PND

- Root disease - Individual nerve - Generalised peripheral nerve neuropathy

Signs and symptoms of root disease

-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

Signs and symptoms of individual nerve disease

- Wasting and weakness of innervated muscles | - Specific Sensory changes

Types of generalised peripheral neuropathy

Axonal or demyelinating

Causes of generalised peripheral neuropathy?

- 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]

where do GND symptoms start and why?

- 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

What is the most common anterior horn disease

MND | amyotrophic lateral sclerosis

Signs and symptoms of MND

- 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

Prognosis and diagnosis of MND

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

Treatment for MND

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

Types of MND and what they affect

- 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