Neurology 5 Flashcards
What is myotonia?
delayed relaxation after sustained muscle contraction- it can identified clinically and on electromyography
What is dystrophia myotinica?
Autosomal dominant
nucleotide triplet repeat expansion, which means there can be anticipation through generations especially when maternally transmitted
onset between 20-50yrs
• Newborns can present with hypotonia and feeding/respiratory difficulties due to muscle weakness
• Older children can present with myopathic facies, learning difficulties, failure to meet milestone and myotonia/hypotonia
What are the features of dystrophia myotinica?
o Cataracts o Frontal balding o Mild cognitive impairment o Oesophageal dysfunction o Cardiomyopathy- main cause of death o Conductive defects o Small pituitary fossa & hypogonadism o Glucose intolerance o Low serum IgG ptosis weakness & thinning of the face and SCM along with the ‘carp mouth’
What is DMD?
X-linked recessive disorder
noticeable symptoms between 1-3yrs
o Difficulty walking, running or jumping
o Difficulty standing up
o Learn to speak later than usual
o Be unable to climb the stairs without support
o Behavioural or learning difficulties
wheelchair by the age of 8-14yrs
• Older children will develop a dilated cardiomyopathy
• By late teens or early 20s, sufferers will start to have breathing problems
Die before or during their 30s
What are congenital muscular dystrophies?
most with recessive inheritance- present at birth or early infancy with weakness, hypotonia or contractures
proximal weakness is slowly progressive with a tendency to contracture when the ability to walk is lost- some may run a more static course
• These dystrophies may be linked with CNS abnormalities, which may result in learning difficulties
• The main difference between DMD and congenital MD is that they are present at birth and tend to have a more variable and longer life expectancy
What is the management for DMD?
- Steroids- help improves muscle strength and function for 6 months – 2years and slows down the process of muscle weakening- daily doses
- Creatinine supplements- recent research has shown that these can improve muscle strength in some people, but will cause side effects
- Cardiac drugs- ACE-I and beta blockers may be prescribed to control blood pressure and arrhythmias, is some cases a pacemaker may need to be fitted to regulate the heartbeat
- Nocturnal ventilation- overnight CPAP may be provided to improve quality of life and prevent apnoea
What is Guillain-barre syndrome?
post-infectious polyneuropathy- presentation is typically 2-3 weeks after a URTI or campylobacter gastroenteritis
• CSF protein is raised after 2 weeks, but WCCs is negative
What are the symptoms of Guillain-barre syndrome?
fleeting abnormal sensory symptoms in the legs
ascending symmetrical weakness with loss of reflexes and autonomic involvement
• Involvement of bulbar muscles leads to difficulty chewing & swallowing and the risk of aspiration-
respiratory depression may require artificial ventilation
maximum muscle weakness may occur only 2-4 weeks after the onset of illness although full recovery may be expected in 95% of cases, this may take up to 2 years
What is the management for Guillain-barre?
supportive, particularly of respiration- corticosteroids have no beneficial effect and may even delay recovery, ventilator supported periods can be significantly reduced by IV Ig or plasma exchange
What is Bell palsy?
isolated LMN paresis of the 7th CN leading to facial weakness
probably post-infectious with an association with HSV in adults
• Corticosteroids may be of value in reducing oedema in the facial canal during the 1st week, but Acyclovir has shown no benefit
• If an 8th CN palsy is also present, this may be a compression lesion at the cerebellar pontine angle (CPA)
• Hypertension should also be excluded as there is an association between Bell’s palsy and coarctation of the
aorta- if bilateral then suspect sarcoidosis or Lyme disease
Complication- conjunctival infection
What is Charcot Marie tooth?
distal muscle wasting and sensory loss with proximal progression over time- it is usually autosomal dominant and may occur without family history
Onset usually by 10 years
What are the signs and symptoms of Charcot Marie tooth?
o Muscle weakness and wasting starting with the intrinsic muscles of the feet and gradually affecting the lower legs and thighs
o Sensory loss is similar and will lead to ataxia- pain & temperature sensation are not usually affected
o Generalised tendon areflexia
o There may be foot drop and difficulty walking
o Spinal deformities occur in 50% eg. thoracic scoliosis
hand tremors, muscle cramps and acrocyanosis (blue extremities)
No treatment, normal life expectancy
What is CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY (CIDP)?
acquired, immune mediated inflammatory disorder of the PNS-it is related to Guillain-Barre syndrome and is thought of a the chronic version of this disease
relapsing symptoms that present and then go
proximal & distal limbs are affected with a sense of weakness, sensory affects include tingling and numbness, but motor symptoms generally predominante- deep tendon reflexes are reduced and gait is abnormal
links to several other diseases including MS and SLE
