Neurology Flashcards

1
Q

What is syncope?

A

Temporary loss of consciousness due to a disruption of blood flow to the brain

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

What is syncope also known as?

A

Vasovagal episodes

Fainting

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

What causes a vasovagal episode?

A

A problem with the autonomic nervous system regulating blood flow to the bran.

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

What happens when the vagus nerve recieves a strong stimulus?

A

It stimulates the parasympathetic nervous system, causing the blood vessels in the brain to relax and the cerebral blood pressure to drop, leading to hypoperfusion of brain tissue

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

What is prodrome?

A

The events/ feelings prior to fainting

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What symptoms may be included in prodrome?

A
Hot or clammy
Sweaty
Heavy
Dizzy/ lightheaded
Blurred/ dark vision
Headache
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the causes of primary syncope (simple fainting)?

A

Dehydration
Missed meals
Extending standing in warm environment
Strong stimuli

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What events may strongly stimulate the vagus nerve?

A

Emotional event
Painful sensation
Change in temperature

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

What are the secondary causes of syncope?

A
Hypoglycaemia
Dehydration
Anaemia
Infection
Anaphylaxis
Arrhythmias
Valvular heart disease
Hypertrophic obstructive cardiomyopathy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are the key points to take in a syncope history?

A
Differentiate it from seizure
Triggers? 
Concurrent ilnness? 
Injuries caused by colapse? 
Associated cardiac or neurological symptoms?
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What investigations may be done after a vasovagal episode?

A

ECG
24 hour ECG
Echo
Bloods (FBC, electolytes, blood glucose)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is epilepsy?

A

Umbrella term for the tendency to have seizures

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

What are seizures?

A

Transient episodes of abnormal electrical activity in the brain

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are the different types of seizure?

A
Generalised tonic-clonic
Focal 
Absence
Atonic
Myoclonic
Infantile spasms
Febrile convulsions
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is the tonic phase?

A

Muscle tensing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the clonic phase?

A

Muscle jerking

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What phase comes first in a generalised tonic-clonic seizure?

A

Tonic phase

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

What may also occur in a tonic-clonic seizure?

A

Tongue biting, incontinence, groaning and irregular breathing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What happens after a tonic-clonic seizure?

A

Prolonged post-ictal period

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

What happens in the post-ictal period?

A

Person is confused, drowsy and feels irritable/ low

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

What is the first line management of tonic-clonic seizures?

A

Sodium valproate

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

What is the second line management of tonic-clonic seizures?

A

Lamotrigine or carbamazepine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What are focal seizures?

A

Seizures that affect hearing, speech, memory and emotions

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

Where to focal seizures start?

A

In the temporal lobes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What are the different ways focal seizures can present?

A

Hallucinations
Memory flashbacks
Deja Vu
Strange actions on autopilot

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What is the first line management of focal seizures?

A

Carbamazepine or lamotrigine

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

What is the second line management of focal seizures?

A

Sodium valproate or Levetiracetam

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What are absence seizures?

A

When patient becomes blank, stares into space and then abruptly returns to normal

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

Who most commonly gets absence seizures?

A

Children

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

How long do absence seizures typically last?

A

10-20 seconds

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What is the first line treatment for absence seizures?

A

Sodium valproate

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

What are atonic seizures?

A

Drop attacks- brief lapses in muscle tone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

How long to atonic seizures usually last?

A

Less than 3 minutes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What syndrome may be the cause of atonic seizures?

A

Lennox-Gastaut syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What is the first and second line management of atonic seizures?

A

First line= Sodium valproate

Second line= Lamotrigine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What are myoclonic seizures?

A

Sudden brief muscle contractions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

When do myoclonic seizures usually manifest?

A

In children as part of juvenile myoclonic epilepsy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

What is the management of myoclonic seizures?

A

1st line= sodium valproate

2nd= lamotrigine/ levetiracetam/ topiramate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What are infantile spasms?

A

Clusters of full body spasms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What are infantile spasms also known as?

A

West syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

When do infantile spasms usually start?

A

Around 6 months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

What is the prognosis of infantile spasms?

A

1/3 die by 25

1/3 are seizure free

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What are febrile convulsions?

A

Seizures that occur in children whilst they have a fever

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

In what age range do febrile convulsions begin?

A

6 months- 5 years

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

What key investigations may be done into epilepsy?

A

EEG

MRI brain

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

What is an EEG and when would it be performed?

A

Electroencephalogram, performed after the second instance of simple tonic-clonic seizure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

When would an MRI brain be considered?

A

If the first seizure is in a child <2
Focal seizures
No response to medications

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

What can an MRI brain help rule out?

A

Structural problems and pathology such as tumours

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

What additional investigations may be considered to exclude causes of seizures?

A
ECG
Blood electrolytes
Blood glucose
Blood cultures
Urine cultures
LP
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

What general advice is given to patients/ families with new epilepsy diagnosis?

A

Don’t take baths
Be cautious with swimming, heights, traffic and heavy/ electrical equipment
Avoid driving

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

What is the first line medication for most forms of epilepsy?

A

Sodium valproate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

Which form of epilepsy is sodium valproate not the first line in?

A

Focal seizures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

What is the action of sodium valproate?

A

Increases the activity of GABA, which has a relaxing effect on the brain

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

What are the key side effects of sodium valproate ?

A

Teratogenic
Liver damage
Hair loss
Tremor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

In which patients should sodium valproate be avoided and why?

A

Girls because it is severely teratogenic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

What is the first line medication for focal seizures?

A

Carbamazepine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

What are the notable side effects of carbamazepine?

A

Agranulocytosis
Aplastic anaemia
Many drug interactions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

What are the notable side effects of Phenytoin?

A

Folate & vitamin D deficiency
Megaloblastic anaemia
Osteomalacia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

What are the notable side effects of Ethosuximide?

A

Night terrors

Rashes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

What are the notable side effects of Lamotrigine?

A

Stevens-Johnson syndrome
DRESS syndrome
Leukopenia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

How should you manage someone having a seizure?

A

Safe position
Put something soft under head
Remove obstacles/ danger
Make note of start and end

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

When do you call an ambulance with a seizure?

A

If it lasts more than 5 minutes or is their first seizure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

What is status epilepticus?

A

Medical emergency- seizure lasting more than 5 minutes or 2 or more seizures without regaining consciousness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

How is status epilepticus managed in hospital?

A

ABCDE
IV lorazepam
IV phenytoin if seizure persists

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

What are simple febrile convulsions?

A

Generalised tonic, clonic seizures caused by a high fever

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

How long do simple febrile convulsions last?

A

Less than 15 minutes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

What are complex febrile convulsions?

A

Partial or focal seizures, lasting more than 15 minutes or occurring multiple times during the same febrile illness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

What are the differential diagnoses of a febrile convulsion?

A
Epilepsy
Meningitis/ encephalitis
Intracranial space occupying lesions (brain tumour/ haemorrhage) 
Syncopal episode
Electrolyte abnormalities
Trauma
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

What is the typical presentation of a febrile convulsion?

A

18 month year old child presenting with 2-5 minute tonic clonic seizure during high fever

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

How are febrile convulsions managed?

A

Identify underlying source of infection

Paracetamol/ ibuprofen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

What are breath holding spells?

A

Involuntary episodes during which a child holds their breath

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

What usually triggers breath holding spells?

A

Something upsetting or scary

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

In what age range do breath holding spells usually occur?

A

6-18 months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

What are the two types of breath holding spells?

A

Cyanotic breath holding spells

Pallid breath holding spells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

What are cyanotic breath holding spells?

A

When the child gets really worked up, lets out a long cry, then stops breathing, becomes cyanotic and loses consciousness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
76
Q

What are reflex anoxic seizures?

A

When the child is startled, the vagus nerve sends strong signals to the heart that causes it to stop beating/

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
77
Q

What happens after a cyanoti breath holding spell?

A

The child regains consciousness and starts breathing within a minute

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
78
Q

What happens during a reflex anoxic seizure?

A

The child goes pale, loses consiousness and may have some muscle twitching

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
79
Q

How long do reflex anoxic seizures typically last?

A

30 seconds

80
Q

How are breath holding spells managed?

A

Exclude other pathology
Treat any iron deficiency anaemia
Educate and reassure

81
Q

What are the causes of headaches in children?

A
Tension headaches
Migraines
ENT infection
Analgesic headache
Vision problems
Raised ICP
Brain tumours
Meningitis
Encephalitis
Carbon monoxide poisoning
82
Q

What is the main cause of headaches in children?

A

Tension headaches

83
Q

What are tension headaches?

A

Common type of headache producing mild ache across forehead (band- like pressure)

84
Q

What may trigger tension headaches?

A

Stress, fear or discomfort
Skipping meals
Dehydration
Infection

85
Q

How are tension headaches managed?

A
Reassurance
Analgesia
Regular meals
Avoid dehydration
Reduce stress
86
Q

How long do tension headaches typically last in children?

A

30 minutes

87
Q

What are the different types of migraine?

A

Migraine with or without aura
Silent migraine
Hemiplegic migraine
Abdominal migraine

88
Q

What is a silent migraine?

A

Migraine with aura but without headache

89
Q

What is a hemiplegic migraine?

A

Migraine that causes temporary weakness down one side of the body

90
Q

What are the common presenting features of a migraine?

A
Unilateral, severe, throbbing pain
Often photo/ phonophobia
Visual auras
N&V
Abdominal pain
91
Q

How are migraines in children managed supportively?

A

Rest/
Fluids
Low stimulus environment

92
Q

What medications can be used to manage migraines in children?

A

Paracetamol
Ibuprofen
Sumatriptan
Antiemetics

93
Q

What medications can be used as migraine prophylaxis?

A

Propanolol
Pizotifen
Topiramate

94
Q

What are abdominal migraines?

A

Central abdominal pain lasting more than 1 hour. Tend to occur in young children before developing traditional migraines when they get older

95
Q

What is cerebral palsy?

A

Permanent neurological problems resulting from damage to the brain around the time of birth

96
Q

What are the antenatal causes of cerebral palsy?

A

Maternal infections

Trauma during pregnancy

97
Q

What are the perinatal causes of cerebral palsy?

A

Birth asphyxia

Pre-term birth

98
Q

What are the different types of cerebral palsy?

A

Spastic
Dyskinetic
Ataxic
Mixed

99
Q

What is spastic CP?

A

Hypertonia and reduced function

100
Q

What is dyskinetic CP?

A

Problems controlling muscle tone (both hyper and hypotonia), causing athetoid movements and oro-motor problems

101
Q

What causes spastic CP?

A

Damage to upper motor neurones

102
Q

What causes dyskinetic CP?

A

Damage to basal ganglia

103
Q

What is ataxic CP?

A

Problems with coordinated movement resulting from damage to the cerebellum

104
Q

What is spastic CP also known as?

A

Pyramidal CP

105
Q

What is dyskinetic CP also known as?

A

Athetoid or extrapyramidal CP

106
Q

What are the different patterns of spastic cerebral palsy?

A

Monoplegia
Hemiplegia
Diplegia
Quadraplegia

107
Q

What is hemiplegia?

A

One side of the body affected

108
Q

What is diplegia?

A

When all four limbs are affected, but mostly the legs

109
Q

What are the signs and symptoms of CP during development?

A
Failure to meet milestones
Increased/ decreased tone 
*Hand preference before 18 months
Problems with coordination, speech or walking
Feeding/ swallowing problems
Learning difficulties
110
Q

What gait may you find on examination of a child with CP?

A
Hemiplegic/ diplegic 
Ataxic
High stepping
Waddling
Antalgic gait (limp)
111
Q

What may be found on neurological examination of a patient with an upper motor neurone cerebral palsy?

A

Hemipledic/ diplegic gate
Hypertonia
Slightly reduced power
Brisk reflexes

112
Q

What may be found on neurological examination of a patient with a lower motor neurone cerebral palsy?

A
High stepping gate
Reduced muscle bulk with fasciculations
Hypotonia
Dramatically reduced power
Reduced reflexes
113
Q

What is a hemiplegic/ diplegic gait?

A

When there is increased muscle tone and spasticity in the legs, caused them to be extended with plantar flexion. This means they must swing leg around in a large semicircle.

114
Q

What are the complications/ conditions associated with cerebral palsy?

A
Learning disability
Epilepsy
Kyphoscoliosis
Muscle contractures
Hearing/ visual impairment
GORD
115
Q

How is cerebral palsy managed?

A
MDT:
Physiotherapy
OT
SALT
Dieticians
Paediatricians
Social workers
Orthopaedic surgeons
116
Q

What is strabismus?

A

Misalignment of the eyes

117
Q

What will a person with strabismus experience?

A

Double vision

118
Q

What is amblyopia?

A

Lazy eye (affected eye has reduced function compared to dominant eye)

119
Q

What is esotropia?

A

Inward positioned squint

120
Q

What is exotropia?

A

Outward positioned squint

121
Q

What is hypertropia?

A

Upward moving affected eye

122
Q

What is hypotropia?

A

Downward moving affected eye

123
Q

What are the causes of strabismus?

A
Idiopathic
Hydrocephalus
Cerebral palsy
Space occupying lesion
Trauma
124
Q

What investigations do you do into strabismus?

A
General inspection
Eye movement
Fundoscopy
Visual acuity
Hirschberg's test
Cover test
125
Q

What is Hirschberg’s test?

A

Shine pen-torch at patient from 1 meter away. When they look at it, observe reflection of light source on their cornea (should be central and symmetrical)

126
Q

What is a cover test?

A

Cover one eye and ask patient to focus on an object in front of them. Move the cover across the opposite eye and watch movements of previously covered eye. (Will show exotropia and esotropia)

127
Q

How is strabismus managed?

A
Earlier the better
Occlusive patch 
Atropine drops (blurs vision in good eye) 
Glasses
Surgery
Botox
128
Q

What is hydrocephalus?

A

Abnormal build up of CSF in the brain and spinal cord

129
Q

What causes hydrocephalus?

A

An overproduction of CSF or a problem with draining or absorbing it

130
Q

How many ventricles are there in the brain and what are they?

A

4

Two lateral ventricles, third and fourth

131
Q

What do the brain ventricles contain?

A

CSF

132
Q

Where is CSF created?

A

In the four choroid plexuses (in each ventricle) and by the walls of the ventricles

133
Q

Where is CSF absorbed?

A

Into the venous system by the arachnoid granulations

134
Q

What is the most common cause of hydrocephalus?

A

Aqueductal stenosis, leading to insufficient drainage

135
Q

What is the cerebral aqueduct?

A

Passage connecting the third and fourth ventricle

136
Q

What happens in aqueductal stenosis?

A

There is stenosis of the aqueduct connect the third and fourth ventricle, blocking the normal flow of CSF out of the third ventricle, causing it to build up in the lateral and third ventricles

137
Q

What are other congenital causes of acqueductal stenosis?

A

Arachnoid cysts
Arnold-Chiari malformation
Chromosomal abnormalities
Congenital malformations

138
Q

What is an Arnold-Chiari malformation?

A

Where the cerebellum herniates downwards through the foramen magnum, blocking the outflow of CSF

139
Q

At what age do the cranial sutures fuse?

A

2 years

140
Q

How does hydrocephalus present in babies?

A
Enlarged and rapidly increasing head circumference
Bulging anterior fontanelle
Poor feeding/ vomiting
Poor tone
Sleepiness
141
Q

What is the mainstay of treatment for hydrocephalus?

A

VP shunt

142
Q

What is a VP shunt?

A

Catheter placed into ventricle and drains CSF into another body cavity (usually peritoneal)

143
Q

Why is the peritoneal cavity the most commonly used to drain CSF?

A

There is plenty of space and it is easily reabsorbed

144
Q

What are the complications of a VP shunt?

A
Infection
Blockage
Excessive drainage
Intraventricular haemorrhage
Outgrowing shunt
145
Q

How often do VP shunts need replacing?

A

Every 2 years

146
Q

What is craniosynostosis?

A

When the skull sutures close prematurely

147
Q

What does craniosynostosis cause if left untreated?

A

Raised intracranial pressure
Abnormal head shapes
Restriction in brain growth

148
Q

What is the main presenting feature of craniosynostosis?

A

Abnormal head shape

small head in proportion to body, anterior fontanella closure before 1

149
Q

What is the head shape in saggital synostosis?

A

Long and narrow from front to back

150
Q

What is the head shape in coronal synostosis?

A

Bulging on one side of forehead

151
Q

What is the head shape in Metopic synostosis?

A

Pointy triangular forehead

152
Q

What is the head shape in lambdoid synostosis?

A

Flattening on one side of the occiput

153
Q

What investigations are done for suspected craniosynostosis?

A

Skull Xray

CT head

154
Q

How are mild cases of craniosynostosis managed?

A

Monitored and followed up over time

155
Q

How are more severe cases of craniosynostosis managed?

A

Surgical reconstruction of the skull

156
Q

What is plagiocephaly?

A

Flattening in an area of the baby’s head

157
Q

What is brachycephaly?

A

Flattening at the back of the head resulting in a short head from back to front

158
Q

What causes plagio/brachycephaly?

A

Positional plagiocephaly: When a baby has a tendency to rest their head on a particular point, so the bones and sutures mould with gravity

159
Q

When and how do babies usually present with How are mild cases of plagiocephaly?

A

3-6 months with abnormal head shape

160
Q

What must be excluded when diagnosing plagiocephaly?

A

Craniosynotosis

Congenital muscular torticollis

161
Q

What is congenital muscular torticollis?

A

Shortening of the sternocleidomastoid muscle on one side

162
Q

How is plagiocephaly managed?

A

Encourage baby to avoid resting on flattened area

Plagiocephaly helmets

163
Q

What is muscular dystrophy?

A

Umbrella term for genetic conditions that cause gradual weakening and wasting of muscles

164
Q

What is the main type of muscular dystrophy?

A

Duchennes muscular dystrophy

165
Q

What are other types of muscular dystrophy?

A
Beckers
Myotonic
Facioscapulohumeral
Oculopharyngeal
Limb-girdle
Emery-Dreifuss
166
Q

What sign will be present in children with proximal muscle weakness?

A

Gower’s sign

167
Q

What is Gower’s sign?

A

When standing up from sitting, they get on their hands and knees, then push their hips up and backwards, before transferring weight backwards and transferring hands to knees

168
Q

How is muscular dystrophy managed?

A

MDT:
OT, PT, equipment (wheelchairs)
Surgical/ medical management of complications (e.g. scoliosis, heart failure)

169
Q

What kind of inheritance pattern is duchennes muscular dystrophy?

A

X-linked recessive

170
Q

What causes Duchennes muscular dystrophy?

A

Defective gene for dystrophin on X-chromosome

171
Q

What is Dystrophin?

A

Protein that helps hold muscles together at the cellular level

172
Q

In which patients does Duchennes muscular dystrophy pretty much solely present and why?

A

Boys- girls have a spare X chromosome

173
Q

At what age does Duchennes usually present?

A

3-5

174
Q

How does Duchennes usually first present?

A

With weakness in muscles around pelvis

175
Q

What is the prognosis of Duchennes?

A

Progressive disease and eventually all muscles will be affected
Wheelchair bound by teenager
Life expectancy of 25-35 years

176
Q

What can be used to slow the progression of muscle weakness in Duchennes?

A

Oral steroids

Createnine can improve muscle strength

177
Q

How does Beckers muscular dystrophy differ from Duchenens?

A

Dystrophin gene is less severely affected and maintains some function
Presents later and less predictable

178
Q

What are the typical features of myotonic dystrophy?

A

Progressive muscle weakness
Prolonged muscle contractions
Cataracts
Cardiac arrhythmias

179
Q

What is the key feature of myotonic dystrophy to remember?

A

Prolonged muscle contraction- e.g. may be unable to let go after shaking hands or opening doorknob

180
Q

What kind of condition is myotonic dystrophy and when does it typically present?

A

Genetic disorder

Presents in adulthood

181
Q

What is facioscapulohumeral muscular dystrophy?

A

Weakness around face, progressing to shoulderns and arms

182
Q

When and how does facioscapulohumeral muscular dystrophy usually present?

A

In childhood with child sleeping with eyes slighlty open and weakness in pursing lips

183
Q

What is oculopharyngeal muscular dystrophy?

A

Weakness of ocular muscles and pharynx

184
Q

When and how does oculopharyngeal muscular dystrophy usually present?

A

Bilateral ptosis, restricted eye movements and swallowing problems in late adulthood

185
Q

What is limb-girdle muscular dystrophy?

A

Progressive weakness around the limb girdles (hips and shoulders) presenting in teenage years

186
Q

What is Emery-Dreifuss muscular dystrophy?

A

Dystrophy presenting in childhood with contractures in elbows and ankles, as well as progressive muscle weakness and wasting

187
Q

What is spinal muscular atrophy?

A

Rare genetic condition causing progressive loss of motor neurones, leading to progressive muscular weakness

188
Q

What kind of genetic condition is spinal muscular atrophy?

A

Autosomal recessive

189
Q

What neurones does SMA affect?

A

Lower motor neurones in spinal cord

190
Q

What lower motor neurone signs will you get in SMA?

A
Fasciculations
Reduced muscle bulk
Reduced tone
Reduced power
Reduced/ absent reflexes
191
Q

What are the 4 categories of spinal muscular atrophy?

A

SMA type 1, 2 4 & 4

192
Q

What is SMA type 1?

A

Onset in first few months of life and progresses to death within 2 years

193
Q

What is SMA type 2?

A

Onset within first 18 months of life. Most never walk but survive into adulthood

194
Q

What is SMA type 3?

A

Onset after first year of life. Most walk without support but lose ability. Life expectancy close to normal

195
Q

What is SMA type 4?

A

Onset in 20s. Most retain ability to walk short distances but everyday tasks can lead to significant fatigue

196
Q

How is spinal muscular atrophy managed?

A

Supportive with MDT

197
Q

What may be required to prevent respiratory failure in those with SMA?

A

Non-invasive ventilation

Tracheostomy with mechanical ventilation (SMA T1)