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A very rare syndrome combining mental retardation and early spastic diplegia.

Incidence is unknown. Autosomal recessive inheritance.

Affected patient presents with spastic diplegia in early infancy. Motor development is slow and there is generalized muscular hypotonia and hyperreflexia. Ataxia is usually absent but gait is often waddling with inward-turning feet. There is mild to moderate mental retardation with slow speech development. Long-term followup has not been reported.

Assess gait and motor function. Obtain history of previous anesthetics and muscle biopsy result if available. Biochemistry including potassium and creatine phosphokinase level. Careful intraoperative positioning is needed.

Gustavson K, Modrzewska K, Erikson A: Hereditary spastic diplegia with mental retardation in two young siblings. Clin Genet 36:439, 1989.  [PubMed: 2591069]

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