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spastic paraplegia-Paget disease of bone syndrome

Disease Summary
Associated Targets (1)
Tchem

1


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Mondo Description Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.
Mondo Term and Equivalent IDs
MONDO:0018005:  spastic paraplegia-Paget disease of bone syndrome
Orphanet:329475: 
UMLS:CN204217: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found