Neuromuscular disorders Flashcards
(43 cards)
1
Q
what do neuromuscular disorders affect?
A
- affect neuromuscular system
2
Q
what is the neuromuscular disorder caused by?
A
- genetic predisposition
3
Q
what do genetic factors affect? (3)
A
- nerves that control your muscles
- your muscles
- communication between your nerves and muscles
4
Q
what are neuromuscular disorders characterised by?
A
- characterised by progressive deterioration and weakness of various muscle group
5
Q
what are several causes of neuromuscular disorders?
A
- genetic
- autoimmune
- environmental
6
Q
what are the 6 factors of neuromuscular diseases?
A
- muscle weakness
- muscle wasting
- nerve dysfunction
- genetic factors
- autoimmune disorders
- motor neuron diseases
7
Q
describe muscle weakness
A
- primary and most common symptom
- often specific to certain muscle groups
8
Q
what is muscle wasting?
A
- progressive loss of muscle bulk due to degeneration of muscle tissue
9
Q
what is nerve dysfunction?
A
- impairment in nerve function affecting muscle control
10
Q
what are many neuromuscular diseases? what are they caused by?
A
- many are hereditary
- caused by genetic mutations
11
Q
describe autoimmune disorders
A
- some neuromuscular diseases, like myasthenia gravis
- are caused by the immune system mistakenly attacking components of the neuromuscular system
12
Q
what are motor neuron diseases? what are some examples?
A
- affect the nerve cells that control voluntary muscle activity
- such as amyotrophic lateral sclerosis
13
Q
what are four examples of neuromuscular disorders?
A
- amyotrophic lateral sclerosis
- muscular dystrophy
- myasthenia gravis
- spinal muscular atrophy
14
Q
how do the genes cause neuromuscular disease?
A
- caused by a new mutation in your genes
15
Q
is there always a cause of neuromuscular disorders?
A
- some are autoimmune diseases
- sometimes the cause is unknown
16
Q
is there a cure for neuromuscular disease?
A
- no cure
17
Q
what can treatments of neuromuscular disorders improve? (3)
A
- improves symptoms, increases mobility and improved life
18
Q
how are neuromuscular diseases classified ?
A
- classified based on the affected areas, including cranial and spinal motor neurons, spinal nerve roots, nerve plexuses, peripheral nerves, neuromuscular junctions or muscle
19
Q
how do you diagnose neuromuscular disease?
A
- electromyography
- nerve conduction studies
- nerve and muscle biopsies
- these are often more important than CSF composition
20
Q
what is CSF analysis?
A
- CSF can provide additional data in the evaluation of patients
- changes in CSF composition have been observed in various neuromuscular disease
21
Q
what are changes in CSF composition due to?
A
- 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
22
Q
what are the three types of neuromuscular diseases?
A
- motor neuro disorders
- nerve root and peripheral nerve disorders
- disease of muscle and the neuromuscular junction
23
Q
what are motor neuro disorders?
A
- amyotrophic lateral sclerosis
- poliomyelitis
- poliomyelitis- like syndrome
- stiff person syndrome
24
Q
what are nerve root and peripheral nerve disorders?
A
- acquired demyelinating polyneuropathies
- diabetic neuropathy
- hereditary neuropathies
25
what are diseases of muscle and neuromuscular junction? (3)
- myopathies
- myasthenia gravis
- muscular dystrophies
26
what are the 4 genetic characteristics and mode of inheritance?
- autosomal dominant
- autosomal recessive
- X- linked
- mitochondrial
27
what is autosomal dominant?
- conditions passed down when one parent has the mutated e.g., some types of charcot- marie- tooth disease
28
what is autosomal recessive?
- diseases where both parents must carry and pass on the mutated gene such as certain muscular dystrophies
29
what is X- linked? what is an example?
- disorders linked to genes on the X chromosomes
e.g., Duchenne muscular dystrophy
30
what is mitochondrial genetic characteristics?
- caused by mutations in mitochondrial DNA
- affecting energy production in muscle cells
31
what is congenital?
- present at birth or developing in early infancy
32
what is childhood onset?
- developing in childhood or adolescence
33
what is adult- onset?
- emerging in adulthood
34
what are diagnostic tests for neuromuscular disorders?
- EMG
- nerve conduction studies
35
what do EMG examine?
- examines signals when muscles are at rest or used
36
what do nerve conduction measure?
- measures the signal speed and quality
37
what do EMG and nerve conduction test? what do they distinguish?
- diagnose muscle or nerve disorders
- distinguish muscle disorders from nerve problems
38
what do EMG test?
- tests muscles' response to nerve signals
39
what do nerve conduction tests study?
- identify nerve damage
40
what are the key elements in the history when diagnosing neuromuscular disorders?
- onset
- progression
- pattern of muscle weakness
- family history
41
what are the 4 muscular factors that you can identify when diagnosing neuromuscular disorders?
- muscle strength
- tone
- reflexes
- identify muscle wasting or hypertrophy patterns
42
what are the genetic electrodiagnostic studies? (2)
- electromyography
- nerve conduction studies
43
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
