Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome

Orpha code: 496689OMIM code:

Definition

A rare complex hereditary spastic paraplegia characterized by neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement.

Disease data
Classification

Disease

Synonyms
Kyphoscoliosis-lateral tongue atrophy-HSP syndrome
Kyphoscoliosis-lateral tongue atrophy-HSP syndrome
ORPHA code
496689
OMIM code
-
ICD10 code
G11.4
ICD11 code
-

No additional description.

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