Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Year 2 MIS > Introduction to pathophysiology of the skeletal muscle (Lecture) > Flashcards

Introduction to pathophysiology of the skeletal muscle (Lecture) Flashcards

1
Q

What are type IIx muscle fibres?

A
  • transition between type IIa to type IIb

- type IIa and IIb are fast twitch fibres

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What effect does endurance exercise have on muscle diameter?

A
  • small change

- muscle becomes more toned but no major increase in muscle mass

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What effect does endurance exercise have on muscle blood supply and mitochondrial number?

1 - reduced mitochondrial number and blood supply
2 - reduced mitochondrial number and increased blood supply
3 - increased mitochondrial number and reduced blood supply
4 - increased mitochondrial number and blood supply

A

4 - increased mitochondrial number and blood supply

  • blood delivery increases and increases oxidation capabilities
  • increased mitochondrial content to accommodate oxidative capacity
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What happens to the fibre type in muscles following endurance exercise?

1 - switch from IIb to IIa or I
2 - switch from I to IIb only
3 - switch from IIb to I only
4 - switch from IIa to IIb

A

1 - switch from IIb to IIa or I

  • change from fast twitch to slow twitch
  • type IIx (fast) can become type IIa or even type I (slow)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

During resistance exercise what can happen to muscle fibre type and what affect does this have on muscle force?

1 - switch from IIb to IIa or I
2 - switch from I to IIb only
3 - switch from IIb to I only
4 - switch from IIa to IIb or IIx

A

4 - switch from IIa to IIb or IIx

  • switch from IIa (fast) to type IIx (very fast)
  • results in increased muscle force
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

During resistance exercise what can happen to muscle fibre size, sarcomeres and myofilaments?

A
  • all increase
  • increased fibre size due to increased sarcomeres and myofilaments number
  • results in increased muscle size and strength
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Following an acute injury, such as a sprain, what can ice do in the damaged area?

A
  • reduce swelling and inflammation
  • reduce blood flow
  • reduce pain
  • reduce muscle spasms
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What can heat do to a muscle?

1 - stiffen, reduced stiffness, increased blood flow
2 - relax, reduced stiffness, increased blood flow
3 - stiffen, reduced stiffness, reduced blood flow
4 - relax, reduced stiffness, reduced blood flow

A

2 - relax, reduced stiffness, increased blood flow

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What affect do NSAIDs and aspirins have on muscle pain?

A
  • inhibit COX-1 and 2 that produce prostaglandins
  • no prostaglandins means less sensitisation of nocioceptors
  • reduced pain and inflammation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Long term use of COX-1 and 2 inhibitors can have 2 major side effects and should be avoided. What are they?

A
  • peptic ulcers

- kidney problems (prostaglandins vasodilate afferent arteries) due to reduced blood flow and filtration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Anabolic steroid, such as testosterone can be used to increase muscle size. What affects do anabolic steroid have on the following:

  • protein synthesis
  • catabolism (by opposing cortisol & glucocorticoids)
  • fat
A
  • increases protein synthesis
  • decreases catabolism (proteolysis, lipolysis) by opposing cortisol & glucocorticoids
  • reduces fat by increasing BMR
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Anabolic steroid, such as testosterone can be used to increase muscle size, but large doses are required to see the effects. What are the 4 key side effects of these steroids?

1 - skeletal muscle atrophy, increased organ size, sterility and hair loss
2 - testicle atrophy, organ damage, sterility and hair loss
3 - testicle atrophy, organ damage, hair loss
4 - testicle atrophy, organ damage, sterility

A

2 - testicle atrophy, organ damage, sterility and hair loss

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What affect can space flight and immobilisation have on muscle fibre type?

A
  • decrease in number of type I fibres (slow)
  • increased type IIa and IIx fibres
  • causes muscle atrophy, especially weight bearing
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What affect can space flight and immobilisation have on muscle strength and protein synthesis in muscles?

A
  • reduced protein synthesis

- reduced muscle mass and strength

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is contracture?

A
  • fixed tightening of muscle, tendons, ligaments, or skin when long period of immobilisation
  • prevents normal movement of the associated body part
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Contracture is a fixed tightening of muscle, tendons, ligaments, or skin that prevents normal movement of the associated body part and is associated with long periods of immobilisation. What happens to the following that can lead to contracture?

  • growth process
  • sarcomere number
  • muscle length
A
  • growth process = reversed
  • sarcomeres are lost from myofibrils
  • less sarcomeres causing shortening of the muscle
  • physical therapy can help
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Contracture is a fixed tightening of muscle, tendons, ligaments, or skin that prevents normal movement of the associated body part. What happens to the tendons and fascia that can lead to contracture?

1 - thicken, stiffen, shorten and can becomes fibrotic
2 - thinner, relax, shorten and can becomes fibrotic
3 - thicken, stiffen, lengthen and can becomes fibrotic
4 - thinner, stiffen, lengthen and can becomes fibrotic

A

1 - thicken, stiffen, shorten and can becomes fibrotic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What do skeletal muscles develop as?

1 - myocytes
2 - myoderm
3 - myotubes
4 - myoblasts

A

4 - myoblasts

  • myo = muscle
  • blasts = immature cells
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Are muscle cells able to divide and undergo mitosis?

A
  • no

- due to multi-nucleus being present

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

How do myoblasts create muscle cells resulting in multinucleated muscle cells?

A
  • multiple myoblasts (singular nucleus) fuse together

- results in multi nucleus on peripheries of muscle

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Following a muscle injury, what cell, which are normally quiescent can then stimulate muscle growth and repair?

1 - quiescent myogenic cells, called satellite cells
2 - myoblastd proliferate
3 - myoclasts proliferate
4 - muscle cells expand

A

1 - quiescent myogenic cells, called satellite cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Following a muscle injury, quiescent myogenic cells, called satellite cells are able to stimulate muscle growth and repair. What do they release to stimulate this muscle growth and repair?

1 - insulin growth factor
2 - hepatocyte growth factor
3 - fibroblast growth factor
4 - myoblast growth factor

A
  • hepatocyte growth factor
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Within the muscle cells there is a cell that when activated is able to re-enter the cell cycle and differentiate into new myotubes, myoblasts and eventually new muscle cells. What are these cells called and are they always active?

1 - myoblasts
2 - myoclasts
3 - myosatellite cells
4 - epithelial growth cells

A

3 - myosatellite cells

- generally quiescent and activated by satellite cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What does myalgia mean?

A
  • my = muscle
  • algia = pain
  • so it means muscle pain
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What is myopathy?

A
  • myo = muscle
  • pathy = disease
  • so means diseased muscle
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What is dystrophy?

A
  • muscle wasting
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What is paresis?

A
  • condition in which muscle movement has become weakened or impaired
  • generally due to nerve problems
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Paresis is a condition in which muscle movement has become weakened or impaired. What is this caused by?

A
  • upper motor neuron damage, think UMN lesion

- causes muscle weakness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Paresis is a condition in which muscle movement has become weakened or impaired and is commonly caused by upper motor neuron damage, resulting in muscle weakness. What do the following terms refer to:

Monoparesis
Paraparesis
Hemiparesis
Tetraparesis/Quadriparesis

A
  • monoparesis = one leg or one arm is weakened
  • paraparesis: both legs are weakened (spinal cord damage at the lower level)
  • hemiparesis = one side of the body (arm+leg) are weakened (stroke UMN)
  • tetraparesis/quadriparesis: all 4 limbs are weakened due to cervical cord or spinal cord damage at a higher level
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What is the name of the muscle grading scale used to assess muscle strength in any muscle disorder?

A
  • MRC muscle grading scale
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

The MRC muscle grading scale is used to assess muscle strength in any muscle disorders. What score would be expected in a patient with paralysis (loss of muscle function)?

A
  • 0-1

- maximum score is 5 using the scale of 0-5

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Dystrophy is a loss of muscle mass and strength. What are dystrophies?

A
  • congenital muscle diseases causes degeneration/regeneration cycle
  • results in weakness decreases mobility, making everyday tasks difficult
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Fasciculation’s are a form of involuntary muscle contraction. What are fasciculation’s?

A
  • involuntary visible twitches in single motor units (neurogenic)
  • commonly occur in lower motor neuron diseases
  • guillain-barré syndrome is one example
34
Q

Fibrillations are a form of involuntary muscle contraction. What are Fibrillations?

A
  • involuntary spontaneous contractions of individual muscle fibres (myogenic)
  • invisible to the eye but identified by electromyography and the patient
35
Q

Are we able to see fibrillations of fasiculations?

A
  • fasiculations
36
Q

What is rhabdomyolysis?

A
  • rhabdomyolysis = rhabdo = rod, myo = muscle and olysis = breakdown
  • skeletal muscle only is broken down
37
Q

Rhabdomyolysis = rhabdo = rod, myo = muscle and olysis = breakdown, is essentially skeletal muscle only that is broken down following trauma. What can happen to the colour of patients urine?

1 - becomes clear
2 - becomes darker yellow
3 - becomes thick
4 - becomes dark and tea colour

A

4 - becomes dark and tea colour

38
Q

Rhabdomyolysis = rhabdo = rod, myo = muscle and olysis = breakdown, is essentially skeletal muscle only that is broken down following trauma. Patients can have no urine for 12 hours following trauma, followed by “tea coloured” and hyperkalaemia. Why does the urine become tea coloured?

A
  • myoglobin released from muscles is excreted in urine

- can be used as a diagnostic test

39
Q

Rhabdomyolysis = rhabdo = rod, myo = muscle and olysis = breakdown, is essentially skeletal muscle only that is broken down following trauma. Patients urine can appear dark like tea. Does this occur immediately or delayed?

A
  • patient has no urine for 12 hours following trauma

- urine that pass >12 hours is “tea coloured”

40
Q

Rhabdomyolysis = rhabdo = rod, myo = muscle and olysis = breakdown, is essentially skeletal muscle only that is broken down following trauma. What happens to K+ levels in rhabdomyolysis?

1 - unchanged
2 - hypokalaemia
3 - hyperkalaemia

A

3 - hyperkalaemia

- intracellular K+ is released into blood

41
Q

Rhabdomyolysis = rhabdo = rod, myo = muscle and olysis = breakdown, is essentially skeletal muscle only that is broken down following trauma. How can this affect patients cognitive state and muscles?

A
  • vomiting and confusion

- muscle pain

42
Q

Rhabdomyolysis = rhabdo = rod, myo = muscle and olysis = breakdown, is essentially skeletal muscle only that is broken down following trauma. Patients can have no urine for 12 hours following trauma, followed by “tea coloured” and hyperkalaemia. Which organ is at risk of failure during rhabdomyolysis?

1 - kidney
2 - liver
3 - heart
4 - lungs

A

1 - kidney

43
Q

How can rhabdomyolysis be treated?

A
  • intravenous fluids

- hemodialysis (cleaning of the blood)

44
Q

If we suspect someone has rhabdomyolysis, what medications should we be cautious about?

1 - statins and paracetamol
2 - statins and aspirin
3 - statins and fibrates
4 - fibrates and aspirin

A

3 - statins and fibrates

45
Q

Does hyperthermia or hypothermia cause rhabdomyolysis?

A
  • hyperthermia
46
Q

Rhabdomyolysis is causes by trauma to muscles that results in the loss of skeletal muscle proteins. This can lead to compartment syndrome, what is this syndrome?

A
  • pressure within a compartment increases due to loss of muscle fibre proteins
  • blood flow to the area is restricted
  • can lead to ischaemia damaging muscles and nerves
47
Q

What muscle marker can be measured if there is suspected damage to muscles?

1 - creatine kinase
2 - creatine
3 - lactate dehydrogenase
4 - cardiac creatine phosphokinase

A

2 - creatine kinase

- enzyme creatine kinase (CPK) breakdown product created after donating a phosphate to form ATP

48
Q

The enzyme creatine kinase (CK) can be measured if there is suspected damage to muscles. CK is a breakdown product created after donating a phosphate to form ATP. There are 2 specific isoforms of CK, what are they?

A
  • Skeletal muscle CPK isoform is CK-MM

- Cardiac muscle CPK isoform is CK-MB

49
Q

Why can rhabdomyolysis cause hyperkalaemia?

A
  • muscle cells lyse and release their K+ contained within

- hyperkalaemia is an indicator of muscle damage and rhabdomyolysis

50
Q

Hyperkalaemia can be used as a measure of muscle damage and a sign of rhabdomyolysis. However, hypokalaemia has been identified as a potential cause of rhabdomyolysis. How does low K+ cause rhabdomyolysis?

A
  • K+ is important for skeletal muscle blood flow and vasodilation
  • low K+ results in ischaemia
  • ischaemia causes muscle cramp, depleted state and eventually rhabdomyolysis
51
Q

What is myasthenia gravis?

A
  • autoimmune disorder affecting the motor units (motor neuron and skeletal muscle)
52
Q

Myasthenia gravis is an autoimmune disorder affecting motor units (motor neuron and skeletal muscle). What happens at the motor unit?

A
  • B cells produce antibodies against acetylcholine receptors on post synapse
  • muscles are not depolarised causing muscle weakness
53
Q

Myasthenia gravis is an autoimmune disorder affecting motor units (motor neuron and skeletal muscle). B cells produce antibodies against acetylcholine (ACh) receptors on post synapse and ACh cannot bind. Muscles are not depolarised causing muscle weakness. What is often one of the first tissues to present with symptoms of myasthenia gravis?

1 - GIT
2 - skeletal muscle
3 - eyes causing ptosis (eyelid drooping) and diplopia
4 - sexual dysfunction

A

3 - eyes causing ptosis (eyelid drooping) and diplopia

54
Q

Myasthenia gravis is an autoimmune disorder. B cells produce antibodies against acetylcholine (ACh) receptors on post synapse and ACh cannot bind, causing muscle weakness. What type of disorders is this from the options below:

1) Myopathy
2) Neuropathy
3) Neuronal degeneration
4) Space occupying lesion

A

2 - Myopathy

  • affects the post synapse, which is part of the muscle
  • myopathy means pathology of skeletal muscle
55
Q

What tumour is myasthenia gravis associated with?

1) Lipoma
2) Myosarcoma
3) Osteosarcoma
4) Thymoma

A

4) Thymoma

56
Q

Medication for myasthenia gravis is acetylcholinesterase inhibitors, which aims to increase the levels of ACh. However, if this medication is taken excessively this can lead to high levels of acetylcholine, which is part of the nicotinic and muscarinic receptors. What effects can this have on the following:

GI system (muscarinic)
Salivation (muscarinic)
Lacrimation (muscarinic)
Muscles (nicotinic and muscarinic)

nicotinic = parasympathetic and sympathetic
muscarinic = parasympathetic
A
  • GI system – over stimulation causing vomiting, diarrhoea, colic
  • Salivation – over stimulation of salivary glands
  • Lacrimation – over stimulation of lacrimal glands
  • Muscles – fasciculation, flaccid paralysis (receptors desensitise to high ACh and stop contracting)
57
Q

What are the 3 most common treatments for myasthenia gravis, other than acetylcholinesterase inhibitors?

A

1 - thymectomy
2 - immunosuppressive drugs to target autoimmune antibodies
3 - plasmapheresis removal of antibodies attacking receptors

58
Q

Spinal muscular atrophy (SMA), is also known as what?

A
  • floppy baby syndrome
59
Q

Spinal muscular atrophy (SMA), also known as floppy baby syndrome is one of the most common genetic causes of infant death. What form if inheritance is this?

1 - autosomal recessive
2 - autosomal dominant

A

1 - autosomal recessive

- two copies of an abnormal gene must be present

60
Q

Spinal muscular atrophy (SMA), also known as floppy baby syndrome is one of the most common genetic causes of infant death. This is an autosomal recessive disease, meaning two copies of an abnormal gene must be present in order for the disease or trait to develop. What is the most common genetic mutation?

1 - SMN1
2 - SMN11
3 - SMA45
4 - SMA51

A

1 - SMN1

  • SMN = survival of motor neuron 1 (SMN1)
  • altered SMN protein production, causing cells to die and not function correctly
61
Q

Spinal muscular atrophy (SMA), also known as floppy baby syndrome is one of the most common genetic causes of infant death. This is an autosomal recessive disease, meaning two copies of an abnormal gene must be present in order for the disease or trait to develop. The most common genetic mutation is in the survival of motor neuron 1 (SMN1), causing a defect in SMN protein production. This causes death of lower motor neurons in the anterior horn of the spinal cord. Does this affect upper and lower motor neurons?

A
  • only lower motor neuron (LMN) death

- LMN need SMN protein in the anterior horn

62
Q

There are 4 different types of spinal muscular atrophy (SMA) and they are grouped based on when they affect the individual. What is type 1 SMA and when does it present?

1 - presents <6 months and least severe form
2 - presents <6 months and most severe form
3 - presents 7-18 months and least severe form
4 - presents >18 years and most severe form

A

1 - presents <6 months and least severe form

-

63
Q

There are 4 different types of spinal muscular atrophy (SMA) and they are grouped based on when they affect the individual. What is type 2 SMA and when does it present?

1 - presents 7-18 months and more severe than type 1 SMA
2 - presents <6 months and most severe form
3 - presents 7-18 months and less severe than type 1 SMA
4 - presents >18 years and most severe form

A

3 - presents 7-18 months and less severe than type 1 SMA

64
Q

There are 4 different types of spinal muscular atrophy (SMA) and they are grouped based on when they affect the individual. What is type 3 SMA and when does it present?

1 - presents 7-18 months and more severe than type 1 SMA
2 - presents <6 months and most severe form
3 - presents 7-18 months and less severe than type 1 SMA
4 - presents >18 months and least severe form

A

4 - presents >18 months and least severe form

65
Q

There are 4 different types of spinal muscular atrophy (SMA) and they are grouped based on when they affect the individual. What is type 4 SMA and when does it present?

1 - presents 7-18 months and more severe than type 1 SMA
2 - affects adults only with severe symptoms
3 - affects adults only with mild symptoms
4 - presents >18 years and least severe form

A

3 - affects adults only with mild symptoms

66
Q

In spinal muscular atrophy (SMA) is the disease more severe if it presents earlier or later?

A
  • most severe forms are those that present early
67
Q

Spinal muscular atrophy (SMA), also known as floppy baby syndrome is one of the most common genetic causes of infant death. This is an autosomal disease, meaning two copies of an abnormal gene must be present in order for the disease or trait to develop. The most common genetic mutation is in the survival of motor neuron 1 (SMN1), causing a defect in SMN protein production, causing cells to die and not function correctly. This can cause de-innervation of muscle fibres. What can this cause to fibre type and fibre grouping, keeping in mind that in healthy tissue we expect to see fibre types I, IIa and IIb are spread out.

A
  • in SMA fibres group together due to nearby muscle cells innervating neighbouring muscle cells, called muscle fibre grouping
68
Q

What is the function of Ryanodyne Receptor (RyR) in skeletal muscle?

1 - alongside dihydropyridine (DHP receptor releases Ca2+ from sarcoplasmic reticulum
2 - works alone in releasing Ca2+ from sarcoplasmic reticulum
3 - alongside sarcoplasmic reticulum Ca2+ ATPase (SERCA) releases Ca2+ from sarcoplasmic reticulum
4 - inhibits Ca2+ release from sarcoplasmic reticulum

A

1 - alongside dihydropyridine (DHP receptor releases Ca2+ from sarcoplasmic reticulum

69
Q

What is malignant hyperthermia?

A
  • autosomal dominant genetic mutation (only 1 mutated gene is needed
  • causes influx of Ca2+ into the muscle cell
70
Q

Malignant hyperthermia is an autosomal dominant genetic mutation (only 1 mutated gene is needed) that causes an influx of Ca2+ into the muscle cell. A mutation in what gene is likely to cause this that we need to know?

1 - sarcoplasmic reticulum Ca2+ ATPase (SERCA)
2 - Ryanodyne Receptor (RyR)
3 - dihydropyridine (DHP)
4 - ACh receptors

A

2 - Ryanodyne Receptor (RyR)

71
Q

Malignant hyperthermia is an autosomal dominant genetic mutation (only 1 mutated gene is needed) that causes an influx of Ca2+ into the muscle cell. A mutation in the Ryanodyne Receptor (RyR) gene is likely to cause this following a bad reaction to gas anaesthetics. How can this present?

A
  • ↑ O2 consumption, ↑ CO2, acidosis
  • tachypnoea
  • muscles and the body overheat
72
Q

Malignant hyperthermia is an autosomal dominant genetic mutation (only 1 mutated gene is needed) that causes an influx of Ca2+ into the muscle cell. A mutation in the Ryanodyne Receptor (RyR) gene is likely to cause this following a bad reaction to gas anaesthetics. Patients can ↑ O2 consumption, ↑ CO2, acidosis, tachypnoea and muscles and the body overheat. What effect can this then have on muscles?

A
  • muscles are damaged (rhabdomyolysis)
  • hyperkalaemia due to muscle cell damage
  • muscles become rigid
73
Q

Malignant hyperthermia is a severe reaction to anaesthesia drugs. What can this form of reaction then cause?

A
  • dangerously high body temperature, rigid muscles or spasms, rhabdomyolysis, rapid heart rate, and other symptoms
74
Q

Malignant hyperthermia is a genetic mutation in the Ryanodyne Receptor (RyR), which is a Ca2+ ion channel membrane in sarcoplasmic reticulum, that causes a severe reaction to anaesthesia drugs. What type of inheritance is this?

A
  • autosomal dominant

- only one mutated gene is required

75
Q

There is a muscle marker of damaged muscles that is increased in malignant hyperthermia. What is this marker called?

1 - lactate dehydrogenase
2 - creatine kinase (CPK)
3 - rheumatoid factor
4 - anti-CCP

A

2 - creatine kinase (CPK)

76
Q

What is dystrophin?

A
  • a protein located between the sarcolemma and the outermost layer of myofilaments in the muscle fiber (myofiber)
  • it is a cohesive protein, linking actin filaments to other support proteins that reside on the inside surface of each muscle fiber’s plasma membrane (sarcolemma)
  • crucial for stabilising the sarcolemma acting as a shock absorber and reducing muscle damage
77
Q

Muscular dystrophy is a group of inherited disorders that result in muscle weakening and muscle wasting. What is the most commonly affected mutation in this disorder?

1 - dystrophin gene
2 - actin gene
3 - mitosis proliferation genes
4 - myosin gene

A

1 - dystrophin gene

- makes abnormal dystrophin, de-stabilises the muscles

78
Q

There are 3 main types of muscular dystrophies that we need to be aware of:

  • congenital
  • beckers
  • duchennes

All 3 of these are able to cause some or all of the following:

  • muscle weakness (due to myopathy, not neuropathy)
  • waddling gate
  • contractures
  • cardiorespiratory muscle involvement
  • respiratory weakness

Of the 3 which one presents from birth?

A
  • congenital
79
Q

There are 3 main types of muscular dystrophies that we need to be aware of:

  • congenital
  • beckers
  • duchennes

All 3 of these are able to cause some or all of the following:

  • muscle weakness (due to myopathy, not neuropathy)
  • waddling gate
  • contractures
  • cardiorespiratory muscle involvement
  • respiratory weakness

Of the 3 which 2 affect only males?

A
  • beckers

- duchennes

80
Q

There are 3 main types of muscular dystrophies that we need to be aware of:

  • congenital
  • beckers
  • duchennes

All 3 of these are able to cause some or all of the following:

  • muscle weakness (due to myopathy, not neuropathy)
  • waddling gate
  • contractures
  • cardiorespiratory muscle involvement
  • respiratory weakness

Of the 3 which 1 presents in males aged 2-6 and those affected live into their early 20s?

A
  • duchennes
81
Q

There are 3 main types of muscular dystrophies that we need to be aware of:

  • congenital
  • beckers
  • duchennes

All 3 of these are able to cause some or all of the following:

  • muscle weakness (due to myopathy, not neuropathy)
  • waddling gate
  • contractures
  • cardiorespiratory muscle involvement
  • respiratory weakness

Of the 3 which 1 presents in males aged 2-25 and those affected can live into adulthood?

A
  • beckers
82
Q

Duschennes is a rare x-linked disease genetic disorder that only affects males. Why are only males affected?

A
  • women have 2 X chromosomes
  • if 1 is faulty they use the 2nd
  • men only have 1 X chromosome so if it is affected they have the disease

Year 2 MIS (48 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions