Neuromuscular disorders Flashcards
what do neuromuscular disorders affect?
- affect neuromuscular system
what is the neuromuscular disorder caused by?
- genetic predisposition
what do genetic factors affect? (3)
- nerves that control your muscles
- your muscles
- communication between your nerves and muscles
what are neuromuscular disorders characterised by?
- characterised by progressive deterioration and weakness of various muscle group
what are several causes of neuromuscular disorders?
- genetic
- autoimmune
- environmental
what are the 6 factors of neuromuscular diseases?
- muscle weakness
- muscle wasting
- nerve dysfunction
- genetic factors
- autoimmune disorders
- motor neuron diseases
describe muscle weakness
- primary and most common symptom
- often specific to certain muscle groups
what is muscle wasting?
- progressive loss of muscle bulk due to degeneration of muscle tissue
what is nerve dysfunction?
- impairment in nerve function affecting muscle control
what are many neuromuscular diseases? what are they caused by?
- many are hereditary
- caused by genetic mutations
describe autoimmune disorders
- some neuromuscular diseases, like myasthenia gravis
- are caused by the immune system mistakenly attacking components of the neuromuscular system
what are motor neuron diseases? what are some examples?
- affect the nerve cells that control voluntary muscle activity
- such as amyotrophic lateral sclerosis
what are four examples of neuromuscular disorders?
- amyotrophic lateral sclerosis
- muscular dystrophy
- myasthenia gravis
- spinal muscular atrophy
how do the genes cause neuromuscular disease?
- caused by a new mutation in your genes
is there always a cause of neuromuscular disorders?
- some are autoimmune diseases
- sometimes the cause is unknown
is there a cure for neuromuscular disease?
- no cure
what can treatments of neuromuscular disorders improve? (3)
- improves symptoms, increases mobility and improved life
how are neuromuscular diseases classified ?
- classified based on the affected areas, including cranial and spinal motor neurons, spinal nerve roots, nerve plexuses, peripheral nerves, neuromuscular junctions or muscle
how do you diagnose neuromuscular disease?
- electromyography
- nerve conduction studies
- nerve and muscle biopsies
- these are often more important than CSF composition
what is CSF analysis?
- CSF can provide additional data in the evaluation of patients
- changes in CSF composition have been observed in various neuromuscular disease
what are changes in CSF composition due to?
- transudation of serum proteins, the release of intracellular substances from degenerating cells, the recruitment of inflammatory cells and/ or the production of the cytokines and other signalling molecules
what are the three types of neuromuscular diseases?
- motor neuro disorders
- nerve root and peripheral nerve disorders
- disease of muscle and the neuromuscular junction
what are motor neuro disorders?
- amyotrophic lateral sclerosis
- poliomyelitis
- poliomyelitis- like syndrome
- stiff person syndrome
what are nerve root and peripheral nerve disorders?
- acquired demyelinating polyneuropathies
- diabetic neuropathy
- hereditary neuropathies
what are diseases of muscle and neuromuscular junction? (3)
- myopathies
- myasthenia gravis
- muscular dystrophies
what are the 4 genetic characteristics and mode of inheritance?
- autosomal dominant
- autosomal recessive
- X- linked
- mitochondrial
what is autosomal dominant?
- conditions passed down when one parent has the mutated e.g., some types of charcot- marie- tooth disease
what is autosomal recessive?
- diseases where both parents must carry and pass on the mutated gene such as certain muscular dystrophies
what is X- linked? what is an example?
- disorders linked to genes on the X chromosomes
e.g., Duchenne muscular dystrophy
what is mitochondrial genetic characteristics?
- caused by mutations in mitochondrial DNA
- affecting energy production in muscle cells
what is congenital?
- present at birth or developing in early infancy
what is childhood onset?
- developing in childhood or adolescence
what is adult- onset?
- emerging in adulthood
what are diagnostic tests for neuromuscular disorders?
- EMG
- nerve conduction studies
what do EMG examine?
- examines signals when muscles are at rest or used
what do nerve conduction measure?
- measures the signal speed and quality
what do EMG and nerve conduction test? what do they distinguish?
- diagnose muscle or nerve disorders
- distinguish muscle disorders from nerve problems
what do EMG test?
- tests muscles’ response to nerve signals
what do nerve conduction tests study?
- identify nerve damage
what are the key elements in the history when diagnosing neuromuscular disorders?
- onset
- progression
- pattern of muscle weakness
- family history
what are the 4 muscular factors that you can identify when diagnosing neuromuscular disorders?
- muscle strength
- tone
- reflexes
- identify muscle wasting or hypertrophy patterns
what are the genetic electrodiagnostic studies? (2)
- electromyography
- nerve conduction studies
what is the point for muscle biopsy?
- necessary to diagnose certain neuromuscular disorders
- can reveal characteristics pathological changes in muscle tissue that are indicative of specific conditions such as inflammatory myopathies or mitochondrial diseases
