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1.

SPOAN syndrome

Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive spastic paraplegia resulting in loss of independent ambulation in the teenage years. Additional features include optic atrophy, later onset of sensorimotor peripheral neuropathy, and progressive joint contractures; cognition remains intact (summary by Melo et al., 2015). [from OMIM]

MedGen UID:
324411
Concept ID:
C1836010
Disease or Syndrome
2.

Proximal hyperreflexia

Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee). [from HPO]

MedGen UID:
324413
Concept ID:
C1836012
Finding

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