Degenerative conditions

Question 1

Huntington’s chorea

Answer 1

autosominal dominant genetic condition
progressive deterioration in the nervous system

30-50 y/o
trinucleotide repeat disorder
HTT gene, chromosome 4

Question 2

Huntington’s chorea anticipation

Answer 2

successive generations have more repeats in the gene which results in earlier age of onset, increased severity of symptoms

Question 3

Presentation of Huntington

Answer 3

insiduous and progressive worsening of symptoms
cognitive, psychiatric, mood problems

Chorea (involuntary, abnormal movements)
Eye movement disorders
Speech difficulties (dysarthria)
Swallowing difficulties (dysphagia)

Question 4

diagnosis of Huntingtons

Answer 4

genetic testing

Question 5

mangement of Huntington

Answer 5

There are currently no treatment options for slowing or stopping the progression of the disease.

The key to management of the condition is supporting the person and their family.

Effectively breaking bad news
Involvement of MDT in supporting and maintaining their quality of life (e.g. occupational therapy, physiotherapy and psychology)
Speech and language therapy where there are speech and swallowing difficulties
Genetic counselling regarding relatives, pregnancy and children
Advanced directives to document the patients wishes as the disease progresses
End of life care planning

Question 6

symptomatic relief for Huntington

Answer 6

Antipsychotics (e.g. olanzapine)
Benzodiazepines (e.g. diazepam)
Dopamine-depleting agents (e.g. tetrabenazine)

prognosis: 15-20 years after onset of symptoms. death is often due to respiratory disease (pneumonia) but suicide is more a common cause.

Question 7

Multiple Sclerosis

Answer 7

chronic and progressive condition that involves demyelination of the myelinated neurones in the central nervous system. This is caused by an inflammatory process involving activation of immune cells against the myelin.
<50 y/o
women
symptoms improve in pregnancy and postpartum period

Question 8

pathophysiology of MS

Answer 8

myelin covers axons and neurons in the CNS
myelin helps electrical impulses move faster
peripheral N.S= schwann cells
CNS= oligodendrocytes

MS affects the CNS (oligodendrocytes). inflammation and infiltration of immune cells cause damage to myelin.

clinical attack e.g optic neuritis.

re-myelintion occurs and symptoms reoslve.

MS features vary in location over time. different nerves affected and symptoms change over time.
‘disseminated in time and space’

Question 9

causes of MS

Answer 9

Multiple genes
Epstein–Barr virus (EBV)
Low vitamin D
Smoking
Obesity

Question 10

signs and symptoms of MS

Answer 10

optic neuritis (demyelination of optic nerve- loss of vision in one eye)

double vision (abudcnt nerve)
'internucelar opthalmoplegia'
'conjugate lateral gaze disorder'

Focal weakness
Bells palsy
Horners syndrome
Limb paralysis
Incontinence 

Focal sensory symptoms
Trigeminal neuralgia
Numbness
Paraesthesia (pins and needles)
Lhermitte’s sign is an electric shock sensation travels down the spine and into the limbs when flexing the neck. It indicates disease in the cervical spinal cord in the dorsal column. It is caused by stretching the demyelinated dorsal column.

Ataxia
Ataxia is a problem with coordinated movement. It can be sensory or cerebellar:

Sensory ataxia is the result of loss of the proprioceptive sense, which is the ability to sense the position of the joint (e.g. is the joint flexed or extended). This results in a positive Romberg’s test and can cause pseudoathetosis.
Cerebellar ataxia is the result of problems with the cerebellum coordinating movement. This suggestions cerebellar lesions.

Question 11

Disease progression of MS

Answer 11

clinically isolated syndrome

relapsing remitting