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Neurology > Muscular dystrophy (NMD) > Flashcards

Muscular dystrophy (NMD) Flashcards

1
Q

Describe muscular dystrophies (2)

A
  1. Group of inherited muscular disorders in which one or more genes needed for normal muscle structure and function are defective
  2. Leads to gradual muscle weakness of varying severity
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2
Q

What is the prevalence of muscular dystrophies? (2)

A
  1. Very rare: 1 in 7,000-20,000 people

2. Around 70,000 people in the UK around MD

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3
Q

Name the most common muscular dystrophies in order (3)

A
  1. Facioscapulohumeral
  2. Duchenne
  3. Necker
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4
Q

Outline the aetiology of MD (3)

A
  1. Inheriting a fault gene from one or both parents
  2. Inheritance patterns vary on specific type: recessive, dominant, x-lined
  3. Spontaneous gene mutations
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5
Q

Give an example of a recessive inherited MD (2)

A
  1. Some types of limb-girdle

2. Inherited altered gene version from both parents

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6
Q

Give 3 examples of a dominant inherited MD (4)

A
  1. Facioscapulohumeral
  2. Oculopharyngeal
  3. Some types of limb gurdle
  4. Only need to inherit the mutated gene from one parent, has 50% chance of developing disorder
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7
Q

Give 2 examples of an X-lined disorder (3)

A
  1. Duchenne
  2. Becker
  3. Mutation in a gene on the X chromosome, males will be affected if one of those genes is mutated
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8
Q

What is the prevalence of facioscapulohumeral MD?

A

1 in 20,000

Can affect both males and females (slightly more males)

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9
Q

When do the symptoms of facioscapulohumeral MD begin?

A

7-20 years

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10
Q

Describe the symptoms of facioscapulohumeral MD (5)

A
  1. Facial and shoulder muscles are always affected
  2. Foot drop
  3. Progresses: face, shoulders, upper arms, upper back, calves
  4. Hearing loss and eye problems
  5. Weakness is rarely severe and many people are not disabled
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11
Q

What is impaired when facial and should muscles are impacted in FSHD? (4)

A
  1. Difficulty whistling
  2. Closing eyes tightly
  3. Raising arms
  4. Pursing lips
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12
Q

What is the prognosis of facioscapulohumeral MD? (3)

A
  1. Normal life expectancy
  2. Some may need to use wheelchair in adulthood (1/10)
  3. One form: develops in infancy and rapidly progressive muscle weakness and severe disability
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13
Q

When does Duchenne MD begin?

A

1-3 years

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14
Q

What is the prevalence of Duchenne and Becker MD?

A

1 in 7250

Nearly always occurs in boys

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15
Q

What are the childhood symptoms of Duchenne MD?

A
  1. Muscles around the pelvis and thighs appear bulkier (first affected)
  2. Difficulty walking, running, jumping, standing up, climbing stairs
  3. Speech delay
  4. Behavioural or learning difficulties
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16
Q

What is the prognosis of Duchenne MD? (3)

A
  1. May need wheelchair by 12 years as muscles weaken and lose ability to walk
  2. Usually only live 20-30s
  3. Life threatening when heart and respiratory muscles are damaged
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17
Q

What are the later symptoms of Duchenne MD? (3)

A
  1. Mid teens: develop cardiomypathy
  2. 20s: breathing problems, also affects intercostal muscles and diaphragm
  3. Can develop scoliosis
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18
Q

What is cardiomyopathy?

A

Heart chambers enlarge and walls become thin

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19
Q

How does Becker MD relate to Duchenne MD? (4)

A
  1. Closely related but Becker begins during adolescence
  2. Causes milder symptoms
  3. Also nearly always oocurs in boys
  4. Life expectancy usually isn’t as affected as much
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20
Q

What are the childhood symptoms of Becker MD? (3)

A
  1. Walking delay
  2. Muscle cramps during exercise
  3. Difficulty with sports
21
Q

What are the adolescence symptoms of Becker MD? (2)

A
  1. Difficulty running, walking quickly and climbing stairs

2. Lifting above waist height = difficult

22
Q

What is the prognosis of Becker MD? (3)

A
  1. Most will be able to walk in 40-50s
  2. Often need a wheelchair as condition progresses
  3. At risk of dilated cardiomyopathy and breathing problems
23
Q

When is the onset of myotonic MD? (2)

A
  1. Any time between birth and old age

2. Affects males and females equally

24
Q

Which muscles are affected first in myotonic MD?

A

Face, jaw, neck

25
Q

What are the symptoms of myotonic MD? (6)

A
  1. Muscle stiffness (myotonia)
  2. Clouding of lens of eye (cataracts)
  3. Excessive sleeping
  4. Dysphagia
  5. Behavioural and learning problems in children
  6. Slow and irregular heartbeat (cardiac arrhythmia)
26
Q

What is the prognosis of myotonic MD? (4)

A
  1. Highly variable and often gradually progresses with little changes over long periods of time
  2. Can become more severe as passed down generations
  3. Life expectancy varies
  4. Most deaths = pneumonia, respiratory or cardiac problems
27
Q

How does life expectancy vary in myotonic MD?

A
  1. Many have normal life expectancy

2. More severe congenital forms may die whilst still in infancy or survive only a few years

28
Q

Describe limb-girdle MD (2)

A
  1. Number of related conditions causing weakness in muscle groups at the base of the arms and legs
  2. Males and females are equally effected
29
Q

When do symptoms usually begin in limb-girdle MD?

A

Childhood -> early adulthood

30
Q

Describe the symptoms of limb-girdle MD

A
  1. Mobility problems affecting hip girdle and progressing to shoulder girdle
  2. Muscle weakness in hips, thighs and arms
  3. Loss of muscle mass in affected areas
  4. Back pain
  5. Heart palpatations or irregular heart beats
31
Q

What is the prognosis of limb-girdle MD?

A

Progression of condition depends on the specific type - some slow, some more rapid

32
Q

When do the symptoms of oculopharyngeal MD appear?

A
  1. Become apparent at around 50 years old
33
Q

What areas of muscles are affected in oculopharyngeal MD?

A

Eyes and pharyngeal muscles

34
Q

What are the symptoms of oculopharyngeal MD? (4)

A
  1. Droopy eyelids (may cover eyes and impair vision)
  2. Dysphagia
  3. Progressive restriction of eye movement
  4. Limb weakness around the shoulder and hips
35
Q

What is the prognosis of oculopharyngeal MD?

A

Life expectancy isn’t usually affected

36
Q

When do the symptoms of Emery-Dreifuss MD develop?

A

During childhood or adolescence

37
Q

What symptoms occur during the early symptoms of Emery-Dreifuss MD? (2)

A
  1. Muscle contractures (shortened and tightened - limits movement range)
  2. Areas affected may include arms, neck and feet
38
Q

What symptoms occur during the later stages of Emery-Dreifuss MD?

A

Hip and thigh muscles weaken

39
Q

What is the prognosis of Emery-Dreifuss MD? (3)

A
  1. Often eventually require a wheelchair
  2. Can affect heart’s electrical signals, causing heart block
  3. Shortened life expectancy due to risk of serious cardiac and respiratory problems
40
Q

What is heart block?

A
  1. Abnormally slow heartbeat and palpitations

2. Can be treated with pacemaker

41
Q

Summarise the diagnosis of MD (6)

A
  1. Investigation of symptoms and physical examination
  2. Family history
  3. Genetic testing
  4. Blood tests
  5. Electrical tests on nerves and muscles
  6. Muscle biopsy
42
Q

Summarise the intervention of MD (6)

A
  1. Mobility assistance
  2. Support groups
  3. Surgery
  4. Medication
  5. Creatine supplements
  6. Dysphagia management
43
Q

How are heart complications managed in MD? (3)

A
  1. ECG at regular intervals
  2. ACE inhibitors to relax arteries and make it easier for heart to pump blood
  3. Beta blockers to control irregular heartbeats
44
Q

What are 2 types of management currently being researched in MD?

A
  1. Exon skipping

2. Stem cell research

45
Q

What is exon skipping? (2)

A
  1. Investigating ways of “skipping” additional exons in the dystrophic gene
  2. More dystrophin is produced to reduce the severity of symptoms
46
Q

How is stem cell research being investigated?

A

Investigating if stem cells can be turned into muscle cells and used to regenerate muscle tissue

47
Q

What are creatine supplements used for?

A

Increase muscle strength

48
Q

What medications are used in MD management? (3)

A
  1. Steroids (improve muscle strength)
  2. ACE inhibitors and beta-blockers to treat heart problems
  3. Ataluren for Duchenne and Becker MD
49
Q

What can surgery correct in MD?

A
  1. Postural deformities

Eg. Scoliosis, tight joints, droopy eyelids, fixing shoulder blades to back of ribs for weak shoulder muscles

Neurology (17 decks)

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