Paediatrics Neurology Flashcards
1
Q
What is syncope?
A
Temporarly loss of consciousness due to a disruption of blood flow to the brain
2
Q
What are syncopal episodes also known as?
A
Vasovagal episodes
Fainting
3
Q
What is a vasovagal episode cause by?
A
4
Q
Name some prodromes of fainting?
A
- Hot and clammy
- Sweaty
- Heavy
- Dizzy or lightheaded
- Vision going blurry / dark
- Headache
5
Q
What is the difference between a postictal period following a seizure and period following a faint?
A
Postictal = longer periods of confusion, drowsiness, irritability, disorientation
(Incontinence may occur with both seizures and syncopal episodes)
6
Q
What are some causes of primary syncope (simple fainting)?
A
Dehydration
Missed meals
Extended standing in a warm environment e.g. school assembly
Vasovagal response to stimuli e.g. sudden surprise or pain in the sight of blood
7
Q
What are some secondary causes of syncope?
A
Hypoglycaemia
Dehydration
Anaemia
Infection
Anaphylaxis
Arrhythmias
Valvular heart disease
Hypertrophic obstructive cardiomyopathy
8
Q
What questions to ask for a syncope history?
A
Syncope vs a seizure?
After exercise? (More like secondary cause)
Triggers?
Concurrent illness? Do they have a fever or signs of infection?
Injury? Do they have a head injury?
Associated cardiac symptoms, such as palpitations or chest pain?
Associated neurological symptoms?
Family history, particularly cardiac problems or sudden death?
9
Q
Whats the difference between syncope or seizure?
A
10
Q
What to look for on examination for syncopal episode?
A
Physical injuries?
Concurrent illness, for example an infection or gastroenteritis?
Neurological examination
Cardiac examination, specifically assessing pulses, heart rate, rhythm and murmurs
Lying and standing blood pressure
11
Q
What investigations for syncopal episode?
A
ECG (arrhythmias and long QT)
24 hour ECG if paroxysmal arrhythmias are suspected
Echocardiogram if structural heart disease is suspected
Bloods, including a full blood count (anaemia), electrolytes (arrhythmias and seizures) and blood glucose (diabetes)
12
Q
What is the management of a simple vasovagal episode?
A
- Avoid dehydration
- Avoid missing meals
- Avoid standing still for long periods
13
Q
What is epilepsy?
A
Umbrella term where there is a tendency to have seizures
14
Q
What are seizures?
A
Transient episodes of abnormal electrical activity in the brain
15
Q
What is a generalised tonic-clonic seizure?
A
Loss of consciousness
Tonic (muscle tensing)
Clonic (muscle jerking) movements
Along with tongue biting, incontinence, groaning and irregular breathing
16
Q
What is the post ictal period?
A
Time after seizure when the person is confused, drowsy and feels irritable or low
17
Q
What is the management of tonic-clonic seizures?
A
First line: sodium valporate
Second line: lamotrigineorcarbamazepine
18
Q
What are focal seizures?
A
Seizures which start in the temporal lobes affecting hearing, speech, memory and emotions
19
Q
How do focal seizures present?
A
Hallucinations
Memory flashbacks
Déjà vu
Doing strange things on autopilot
20
Q
What is the treatment for focal seizures?
A
First line: carbamazepine or lamotrigine
Second line: sodium valproate or levetiracetam
(opposite of generalised tonic-clonic seizures)
21
Q
What are absence seizures?
A
Typically in children - patient is blank, stares into space and then abruptly returns to normal
Lasts 10 to 20 seconds (most stop having seizures as they get older)
22
Q
What is the treatment for absence seizures?
A
First line: sodium valporate or ethosuximide
23
Q
What are atonic seizures?
A
Also known as drop attacks characterised by brief lapses in muscle tone (don’t usually last more than 3 months) typically begin in childhood
24
Q
What may atonic seizures be indicative of?
A
Lennox-Gastaut syndrome
25
What is the management of atonic seizures?
First line: **sodium valproate**
Second line: **lamotrigine**
26
What are **myoclonic seizures**?
Sudden brief muscle contractions like a **jump** - patient usually remains awake during the episode
27
What **type of epilepsy** do **myoclonic seizures** occur in?
**Juvenile myoclonic epilepsy**
28
What is the **management** of **myoclonic seizures**?
**First line**: sodium valproate
**Other options**: lamotrigine, levetiracetam or topiramate
29
What are **infantile spasms** also known as?
**West syndrome** (rare 1 in 4000)
30
What are the **features of infantile spasms**?
Begin at 6 months of age
**Clusters of full body spasms**
**Poor prognosis** 1/3 die by 25, 1/3 are seizure free
31
What are the **treatments** for infantile spasms?
**Prednisolone**
**Vigabatrin**
32
What are **febrile convulsions**?
Seizures which occur in children when **they have a fever** (not caused by epilepsy or meningitis or tumours - other underlying neurological pathology)
33
In what age children do **febrile convulsions** occur?
**Between 6 months and 5 years** (no lasting damage - slightly increases risk of developing epilepsy in the future)
34
What are the investigations for epilepsy?
Clear **history** (as opposed to febrile convulsion or vasovagal episode)
**Electroencephalogram** (EEG) show patterns in different forms of epilepsy - perform after second simple tonic-clonic seizure
**MRI brain** (tumours) - when first seizure is in children under 2, focal seizure, no response to first-line anri-epileptics
35
Which **additional investigations** considered to exclude pathology?
**ECG** to exclude problems in the heart
**Blood electrolytes** including sodium, potassium, calcium and magnesium
**Blood glucose** for hypoglycaemia and diabetes
**Blood cultures, urine cultures** and **lumbar puncture** where sepsis, encephalitis or meningitis is suspected
36
What is the **general advice** to patients with **epilepsy**?
- **Showers rather than baths**
- **Cautious** with **swimming** unless seizures are well controlled
- **Cautious** with **heights/traffic/heavy, hot or electrical equipment**
- **Avoid driving** unless they meet specific criteria
37
What is **sodium valporate**?
**First line option** for most forms of epilepsy
**Increases activity of GABA** which relaxes the brain
38
What are the side effects of sofium valporate?
**Teratogenic** so patients need careful advice about contraception
Liver damage and hepatitis
Hair loss
Tremor
39
What is **first line for focal seizures**?
Carbamazepine
40
What are some side effects of carbamazepine?
**Agranulocytosis**
**Aplastic** anaemia
**Induces the P450** system so there are many drug interactions
41
What are the **side effects** of **phenytoin**?
**Folate and vitamin D deficiency**
**Megaloblastic** anaemia (folate deficiency)
**Osteomalacia** (vitamin D deficiency)
42
What are the **side effects** of **ethosuximide**?
Night terrors
Rashes
43
What are the **notable side effects of lamotrigine**?
**Stevens-Johnson syndrome** or DRESS syndrome. These are life threatening skin rashes.
## Footnote
**Leukopenia**
44
What is the **management of seizures**?
Put the patient in safe position (on a **carpeted floor**)
Put in **recovery position**
Put something **under their head**
Remove obstacles
Make a **note of start and end** time
**Call an ambulance** if **more than 5 mins** or if first seizure
45
What is **status epilepticus**?
Seizure **lasting more than 5 mins** or **more than 3 seizures in one hour**
46
What is the **management of status epileptics?**
ABCDE approach
Secure the **airway**
Give high-concentration **oxygen**
Assess **cardiac and respiratory function**
Check **blood glucose levels**
Gain **intravenous access (insert a cannula)**
**IV lorazepam**, repeated after 10 minutes if the seizure continues
47
What is the **medication** if seizures persist in **status epileptics**?
**IV phenobarbital** or **phenytoin** (consider intubation at this point and transfer to ICU)
48
What are the **medical treatment** options for **status epileptics** in the **community**?
**Buccal** **midazolam**
## Footnote
**Rectal diazepam**
49
What are **simple febrile convulsions**?
**Generalised, tonic clonic seizures** - last **less than 15 minutes** and only occur **once during a single febrile illness**
50
What are **complex febrile convulsions**?
**Complex** = partial / focal seizures
Last **more than 15 minutes** or **multiple times** during same febrile illness
51
What are the **differentials diagnosis** for febrile convulsion?
**Epilepsy**
Meningitis, encephalitis or another neurological infection e.g. **cerebral malaria**
Intracranial **space occupying lesions** e.g. **brain tumours** or **intracranial haemorrhage**
**Syncopal episode**
**Electrolyte abnormalities**
**Trauma** (think about non accidental injury)
52
What is the **management** of **febrile convulsion**?
**Identify and manage** the underlying source of infection
Control fever with **simple analgesia** e.g. paracetamol and ibuprofen
53
What is the **general advice** for **managing a febrile convulsion**?
**Stay with** child
Put child in **safe place (carpeted floor)**
Place in **recovery position**
**Don't put anything** in their **mouth**
**Call ambulance** if lasts **more than 5 minutes**
54
What is the **risk of developing epilepsy**?
1.8% for gen population
2-7.5% for simple febrile convulsion
10-20% after complex febrile convulsion
55
What are **breath holding spells**?
**Involuntary** episodes where **child holds breath** (trigged by something upsetting/scary) **between 6-18 months of age** - not harmful in long term, don't lead to epilepsy
## Footnote
**Most outgrow by 4-5 years**
56
What are the **two types** of **breath holding spells**?
**Cyanotic breath holding spells**
**Pallid breath holding spells** (also known as **reflex anoxic seizures**)
57
What are **cyanotic breath holding spells**?
When **child is really upset**, worked up and crying, after a long cry they some breathing, **become cyanotic and lose consciousness** - within a minute regain consciousness - may be **tired and lethargic** after episode
58
What are **reflex anoxic seizures**?
Occur when **child is startled** - **vagus nerve sends strong signals** to the heart to **cause it to stop beating**
Child suddenly goes pale, loses consciousness and may start to have some **seizure-like muscle twitching**
Within **30 seconds the heart restarts**
59
What is the **management of breath holding spells**
Reassure after excluding other pathologies
Treat if **iron deficiency anaemic** (as this has been linked)
60
What are some **causes of headaches** in children?
**Tension** headaches
**Migraines**
**Ear, nose and throat** infection
**Analgesic** headache
Problems with **vision**
Raised **intracranial pressure**
**Brain tumours**
**Meningitis**
**Encephalitis**
**Carbon monoxide** poisoning
61
How do **tension headaches** present?
**Mild ache** across forehead
Band-like **symmetrical pattern**
**Resolve** gradually
**No visual changes** / pulsating sensation
62
What are the **triggers** for **tension headaches** in **children**?
**Stress, fear or discomfort**
**Skipping** meals
**Dehydration**
**Infection**
63
What is the **management** of **stress headaches?**
**Reassurance**
**Analgesia**
**Regular** meals
**Avoiding dehydration**
**Reducing stress**
64
What are the **types of migraine**?
**Migraine** **without aura**
**Migraine with aura**
**Silent migraine** (migraine with aura but without a headache)
**Hemiplegic migraine**
**Abdominal migraine**
No simple explanation for why these occur
65
What are the **features** of a headache caused by a **migraine**?
**Unilateral**
More severe than tension headaches
**Throbbing** in nature
**Take longer to resolve**
66
What are **migraines** associated with?
**Visual aura**
**Photophobia** and **phonophobia**
N&V
Abdo pain
67
What is the **management** of **migraines** in **children**?
**Rest, fluids and low stimulus environment**
**Paracetamol**
**Ibuprofen**
**Sumatriptan**
**Antiemetic**s e.g. domperidone
68
What are some **options** for **migraine prophylaxis**?
**Propranolol** (avoid in asthma)
**Pizotifen** (often causes drowsiness)
**Topiramate** (girls with child bearing potential need highly effective contraception as it is very teratogenic).
69
What are the **features of an abdominal migraine**?
**Central abdominal pain** lasting **more than 1 hour**
**Examination** will be normal
May also have: N&V, anorexia, headache, pallor
70
What **infections** can cause headaches?
**Viral upper respiratory tract infection**
**Otitis media**
**Sinusitis**
**Tonsillitis**
71
What can be given for headaches caused by infection?
Paracetamol and ibuprofen
72
Where is the inflammation in sinusitis?
**Ethmoidal**
**Maxillary**
**Frontal**
**Sphenoidal**
73
What are the **features** of **sinusitis**?
**Facial pain** behind the nose, forehead and eyes
**Tenderness** over the affected sinuses - helps to diagnose
**Resolves** in 2-3 weeks
Mostly **viral**
74
What is **cerebral palsy**?
Name of the **permanent neurological** problems resulting from damage to the brain around time of birth - **not a progressive condition**
75
How does **cerebral palsy vary**?
**Huge variation in symptoms** from wheelchair bound to para-olympic athletes with only subtle problems with coordination / mobility
76
What are the **causes of cerebral palsy**?
**_Antenatal:_**
Maternal infections
Trauma during pregnancy
**_Perinatal:_**
Birth asphyxia
Pre-term birth
**_Postnatal:_**
Meningitis
Severe neonatal jaundice
Head injury
77
What are the **types of cerebral palsy**?
**Spastic:** hypertonia (increased tone) and reduced function resulting from damage to **upper motor neurones**
**Dyskinetic**: problems controlling **muscle tone**, with **hypertonia** and **hypotonia** causing **athetoid movements** and **oro-motor** problems - caused by **problems with basal ganglia**
**Ataxic**: problems with **coordinated movement** resulting from damage to the **cerebellum**
**Mixed**: spastic / dyskinetic / ataxic features
78
What is **spastic CP** also known as?
**Pyramidal CP**
79
**Dyskinetic CP** is also known as?
**Athetoid CP** and **extrapyramidal CP**
80
What limbs can be affected by cerebral palsy?
**Monoplegia**: one limb
**Hemiplegia**: one side of body
**Diplegia**: four limb are affected but mostly legs
**Quadriplegia**: four limb affected but more severely (seizures, speech distubance and other impairments)
81
What children are at risk of developing cerebral palsy?
**Hypoxic-ischaemic encephalopathy**
82
What are some **signs or symptoms** of **cerebral palsy**?
- Failure to meet milestones
- Increased / decreased tone, generally or specific limbs
- **Hand preference below 18 months**
- Proglems with coordination or speech
- Feeding or swallowing problems
- Learning difficulties
83
What information about the cerebral palsy do the following gaits give you?
**Hemiplegic / diplegic**: UMN lesion
**Broad based gait / ataxic:** cerebellar lesion
**High stepping gait**: foot drop / lower motor neurone lesion
**Waddling gait**: pelvic muslce weakness due to myopathy
**Antalgic gait**: limp = localised pain
84
What are the features of UMN lesions vs LMN lesions?
85
What is a **hemiplegic / diplegic gait**?
Increase in **muscle tone and spasticity in legs**
Leg is **extended** with **plantar flexion** of feet and toes - swing leg around in large semicircle due to lack of space
86
What is the **differential** diagnosis for an UMN lesion?
Acquired **brain injury** / **tumour**
87
What are some **complications** and **associated condition****s**to**cerebral palsy**?
**Learning disability**
**Epilepsy**
**Kyphoscoliosis**
Muscle **contractures**
**Hearning** and **visual impairment**
**GORD**
88
What is the **multi-disciplinary** management of CP?
**Physio** to stretch and stregthen muscles, prevent contractures
**OT** help pts manage everyday activities - adaptations e.g. rails or hoist
**Speech and language therapy** for speech and swallowing (may require NG tube or PEG tube)
**Dieticians** to help ensure they meet nutritional requirements
**Orthopaedic surgeons** - profectures to lengthen tendons (**tenotomy**)
**Paediatricians** - regularly see child to optimise medications
**Social workers** for benefits and support
**Charities** and **support groups** to share info on condition
89
What medications are used in CP?
**Muscle relaxants** e.g. baclofen for muscle spasticity and contractures
**Anti-epileptic drugs** for seizures
**Glycopyrronium bromide** for excessive drooling
90
What is a **squint**?
Misalignment of the eyes also known as **stabismus** - images don't match and person will experience **double vision**
91
How is a squint managed in childhood?
Brain copes by **reducing signal from less dominant eye** - so "lazy eye" becomes progressively more disconnected from the brain - can become worse called **amblyopia**
92
What are **concomitant squints due to**?
Differences in control of the **extra ocular muscles** - severity here can vary
93
What are **paralytic squint****s** due to?
**Paralysis** in one or more of the **extra ocular muscles**
94
# **Define** the following terms:
**Strabismus**
**Amblyopia**
**Esotropia**
**Exotropia**
**Hypertropia**
**Hypotropia**
**Strabismus:** the eyes are misaligned
**Amblyopia:** the affected eye becomes passive and has reduced function compared to the other dominant eye
**Esotropia**: inward moving squint
**Exotropia**: outward moving squint
**Hypertropia:** upward moving affected eye
**Hypotropia**: downward moving affected eye
95
What are the **causes of squints**?
**Idiopathic**
**Hydrocephalus**
**Cerebral palsy**
**Space occupying lesions**, for example retinoblastoma
**Trauma**
96
What to **examine for** in a squint?
**General inspection**
**Eye movements**
**Fundoscopy** (or red reflex) to rule out retinoblastoma, cataracts and other retinal pathology
**Visual acuity**
97
What is **Hirschberg's test**?
**Shine a pen torch** at the patient from **1 meter away** when they look at the - look at reflection of light on cornea (should be central - deviation indicates squint) make a note of results
98
What is the **cover test**?
**Cover one eye** and ask patient to **focus on object** in front of them then switch and **watch movement of previously covered eye** - if this eye moves inwards then it had drifted outwards (exotropia) and if it moves outwards then it means it had drifted inwards when covered (esotropia)
99
When does treatment for a squint need to begin?
**Before 8 years** (as visual fields are developing)
100
What is the **management** of a squint?
**Occlusive patch -** cover the good eye and force the weaker to develop
Alternatively, atropine drops can be used in good eye, causing vision in that eye to be blurred
Management is coordinated by an **ophthalmologist** - important to treat any **underlying pathology** e.g. cataracts
**Refractive errors** can be corrected by corrective lenses
101
What is **hydrocephalus**?
**Cerebrospinal fluid** building up **abnormally** within the brain and spinal cord (due to over-production of a problem with **draining** or **absorbing**)
102
How many **ventricles** are there in the brain?
**Four**: 2 lateral, the third and fourth (these contain CSF)
103
What is the purpose of the **CSF**?
Cushion for brain tissue
104
Where is **CSF** created?
In the **four choroid plexuses** (one in each ventricle) by the walls of the ventricles
105
Where is **CSF** absorbed into the **venous system**?
By the **arachnoid granulations**
106
What is the **most common cause of hydrocephalus**?
**Aqueductal stenosis** leading to insufficient drainage of CSF - **cerebral aqueduct** that connects the **third** and **fourth** ventricle is narrowed (causing CSF to build up in the lateral and third ventricles)
107
What are some **other causes** of **hydrocephalus**?
**Arachnoid cysts** - these block the outflow of CSF if large enough
108
What is an **Arnold-Chiari malformation**?
**Cerebellum** herniates downwards through the **foramen magnum** blocking the outflow of CSF
109
What is a final cause of hydrocephalus?
**Chromosomal abnormalities** and **congenital malformations** can cause obstruction to CSF drainage
110
How does **hydrocephalus** present?
Large **occipital-frontal circumference** (as the cranial bones are not yet fused at the **sutures**)
**Bulging** anterior fontanelle
Poor feeding and vomiting
Poor tone
Sleepiness
111
What is the **treatment** for **hydrocephalus**?
**Ventriculoperitoneal shunt** which **drains CSF** from the ventricles into another body cavity (usaully teh **peritoneal cavity**)
**Catheter** is placed through a hole in the skull at the back of the neck and into one of the ventricles - this then runs under the skin into the peritoneal cavity
112
What are the **complications** of **VP shunts**?
Infection
Blockage
Excessive drainage
**Intraventricular haemorrhage** during shunt related surgery
**Outgrowing** them (replacement needed every 2 years)
113
What is **craniosynostosis**?
**Skull sutures** close prematurely (causing **abnormal head shapes** and restriction in growth of the brain)
114
What happens in **untreated craniosynostosis?**
**Raised intracranial pressure** - developmental delay, cognitive impairment, vomiting, irritability, visual impairment, neurological symptoms, seizures
115
What are the different types of synostosis and resulting **head shapes**?
116
What are some **other presenting features** of craniosynostosis?
**Anterior fontanelle closure** before 1 year of age
**Small head** in proportion to the body
117
What is the **first line investigation** for **craniosynostosis**?
What is used to **confirm the diagnosis**?
**Skull x-ray**
**CT head** with bone views to confirm the diagnosis or exclude if doubt on x-ray
118
What is the management of craniosynostosis?
**Mild cases** = monitored and followed up
**Severe** = **surgical reconstruction** of the skull
Lifelong scar on scalp **where surgery was performed**
119
What are **plagiocephaly** and **brachycephaly?**
Common conditions which cause **abnormal head shapes** in otherwise normal healthy babies
120
What is **plagiocephaly**?
Flattening of one area of baby's head (plagio = **oblique** or slanted)
121
What is **brachycephaly**?
Flattening at the back of the head (**brachy** translates as **short** - short head back to front)
122
What is the cause of **plagiocephaly** or **brachycephaly**?
Baby has a tendency to **rest head on a particular point** - resulting in skull bones and sutures moulding with gravity (**positional plagiocephaly)**
123
Why is **plagiocephaly** more common?
Parents are advised to **rest babies on their backs** to **reduce the risk of sudden infant death syndrome?**
124
What is the **typical presentation** of plagiocephaly and brachycephaly?
Baby aged 3-6 months with abnormal shaped head (often with preferance to sleep on one side)
125
What is the **management of plagio/brachycephaly**?
Exclude **craniosynotosis** with thorough history and properly palpating sutures
Look for **congenital muscular torticollis** - a shortening of SCM muscle on one side (physio can help)
**Reassurance** - as vast majority of cases the head shapre returns to normal
126
What **measures can be taken** to encourage the baby to avoid resting on the flattened area?
Position on rounded side to sleep
Supervised tummy time
Using rolled towels or other props
Minimising time in pushchairs and car seats
127
What are **plagiocephaly helmets**?
Treatment option - some limitations in that they need to be used for the vast majority of the day and can lead to skin problems (**contact dermatitis**) and **psychosocial problems** - not routinely available on NHS
128
What is **muscular dystrophy**?
Genetic condition causing **gradual weakening** and **wasting of muscles**
129
What is the **main muscular dystrophy** to know for the purpose of exams?
**Duchennes muscular dystrophy**
130
What are the **other types** of **muscular dystrophy**?
**Beckers muscular** dystrophy
**Myotonic** dystrophy
**Facioscapulohumeral muscular** dystrophy
**Oculopharyngeal muscular** dystrophy
**Limb-girdle muscular** dystrophy
**Emery-Dreifuss muscular** dystrophy
131
What is **Gower's sign**?
The
132
Who is involved in the management of muscular dystrophy?
OT
Physio
Medical appliances (wheelchairs and braces)
Surgial input for **spinal scoliosis** or **heart failure**
133
What causes **Duchennes muscular dystrophy**?
134
When do patients with Duchennes present? What is the prognosis?
3-5 years present (**weakness around pelvis**)
Eventually all muscles affected
**Wheelchair bound** by teenage
**Life expectancy** of 25-35 years with good management of cardiac and resp complications
135
What treatment can be given for Duchennes?
**Oral steroids** - slows progression of muscle weakness by 2 years
**Creatine** supplementation gives a **slight improvement** in muscle strength
136
What is **Beckers muscular dystrophy**?
Similar to **Duchennes** however **dystrophin** gene is less severely affected.
Clinical course is less predictable (symptoms appear at 8-12 years) some require wheelchairs in late 20s or 30s - others are able to walk with assistance into later adulthood
**Management is similar to Duchennes**
137
What are the **typical features of myotonic dystrophy**?
- Progressive **muscle weakness**
- **_Prolonged_ muscle contractions**
- Cataracts
- Cardiac arrhythimas
138
What is **facioscapulohumeral muscular dystrophy**?
Muscular dystrophy which **presents** in **childhood** with **weakness around the face** progressing to the **shoulders and arms**
139
How does **facioscapulohumeral muscular dystrophy** present?
**Sleeping with eyes slightly open** and **pursing their lips**
Unable to **blow their cheeks out** without air leaking from their mouth
140
What is **oculopharyngeal muscular dystrophy**?
Presents in **late adulthood** with weakness of the **ocular muscles** (around the eyes) and **pharynx** (around the throat)
141
How does **ocularpharyngeal muscular dystrophy** present?
**Bilateral ptosis**
**Restricted eye movement**
**Swallowing problems**
Muscles around the limb girdles are also affected to varying degrees
142
What is **limb-girdle muscular dystrophy**?
Presents in teenage years with **progressive weakness around the limb girdles** (hips and shoulders)
143
What is **Emery-Dreifuss muscular dystrophy**?
Presents in childhood with **contractures** mostly in the elbows and ankles (shortening of muscles and tendons that restrict the range of movement in limbs)
Progressive weakening and wasting of muscles, starting with **upper arms and lower legs**
144
What is **spinal muscular atrophy** (SMA)?
Rare **autosomal recessive condition** which causes a **progressive loss of motor neurones** (causing progressive muscular weakness)
145
What are the **features** of SMA?
Affects **lower motor neurones** in the spinal cord
**Lower motor neurone signs** = fasciculations, reduced muscle bulk, reduced tone, reduced power, reduced / absent reflexes
146
What are the different **categories** of **SMA**?
**SMA type 1** = onset in first few months of life, progess to death within 2 years
**SMA type 2** = onset in first 18 months, never walk, survive into adulthood
**SMA type 3** = onset **after** first year of life - walk without support - loose that ability. **Resp muscles less affected** and life expectancy is close to normal
**SMA type 4** = onset in 20s - most retain ability to walk short distances but **require wheelchair for mobility** - everyday tasks can lead to significant fatigue. Resp muscles and life expectancy are not affected
147
What is the **management of SMA**?
No cure - management is supportive
**Physio** - to max the strength in the muscles and retain resp function (split, braces and wheelchairs used)
Resp support with **non-invasive ventilation** to prevent hypoventilation and resp failure (especially during sleep)
**SMA type 1** may require **tracheostomy** with **mechanical ventilation**
**PEG** feeding when swallowing unsafe
