clinical case: 15yo boy with staggering gait
A 15 year old boy was referred to a neurologist when he complained of difficulty in running and developed a staggering gait, poor articulation in speech and clumsiness in the hands during an 8 month period. These symptoms were recalled to be like that of his uncle who became similarly disabled in his early 20's and confined to a wheelchair before finally becoming bedridden.
The physical examination revealed an unsteady, broad-based stance and sudden lurching when walking which was accompanied by a "slapping" sound made by the feet. Loss of vibratory and position sense was observed bilaterally in all extremities. There was a tremor of the upper extremity as the patient reached for objects. Speech was slurred, slow and with an uneven pattern. Hyporeflexia was present but there was only a slight indication of muscle atrophy though there were bilateral Babinski signs.
____________________ taken from http://networkedblogs.com/p22220776 _________________
typically, friedrich's ataxia manifests itself via the 4 following ways:
+ve babinski test (bilat) ==> pyramidal tract
loss of position and movement (deep sensory loss) --> posterior column
staggering gait, poor articulation in speech + clumsiness ==> cerebellar
loss of sense of vibration ==> peripheral neuritis
the first sign to appear is usually difficulty in walking. cause of death is usually
due to cardiac problems. possible complications include carbohydrate intolerance (20%) and diabetes mellitus (10%)
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