DR Medhat MRCP

Friedrich`s ataxia Marie`s ataxia
Age of onset 10-15 years 20-40 years
Cerebellar
Mainly archicerebellar Mainly neocerebellar
manifistations
Deep reflexes lost Exaggerated
Sensations Impaired Preserved
Associated findings 1. Skeletal deformities
2. Congenital heart dis.
(HOCM)
1- Mental impairment.
2- Occular nerve palsy.
3- Extra ∆ manifistations
سؤال امتحان : telagiectasia B. Ataxic
• Basics
Autosomal recessive disorder.
Combined immunodeficiency disorder.
• Features
Cerebellar ataxia
Telangiectasia (small dilated blood vessels near the surface of blood vessels or mm.)
Recurrent chest infections
10% risk of developing malignancy, lymphoma or leukaemia, but also non-lymphoid
tumours.
• Def : ataxia due to loss of proprioceptive (deep) sensations at any point in their pathway.
• Causes :
Peripheral nerve : P. neuropathy
Posterior root : tabes dorsalis.
Posterior column : subacute combind degenr.
Medial lemniscus : brain stem lesions.
Thalamus : thalamic syndrome
Sensory ataxia
Cortical sensory area: parietal lobe lesions.
• Clinical picture :
1. kinetic tremors : only on eye closure.
Rhomberg`s test
2. Rhomberg`s test : may fall on eye closure.
3. Stamping gait :heavy srike on the ground (deep sens.loss).
4. Hypotonia ,hyporeflexia.
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