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PedAM

Pediatric Disease Annotations & Medicines




Disease spastic paraparesis
Phenotype C0004134|ataxia
Sentences 2
PubMedID- 23269439 This spectrum encompasses moderately severe hereditary spastic paraparesis (hsp) with more minor ataxia in two siblings, moderately severe ataxia without spasticity in the third, and a very mild gait ataxia in the fourth.
PubMedID- 24002088 Clinical examination revealed spastic paraparesis with gait ataxia, hyperreflexia of deep tendon reflexes with bilateral babinski and hoffmann signs, and mental retardation (iq: 50; mattis: 118/144).

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