disease 2,153 words KG: ent-dise-a8c69bd3 2026-03-24
kind:diseasesection:diseasesstate:published
Contents

Primary Lateral Sclerosis (PLS)

Disease Info
HTRA1 mutationsAssociated with PLS and neurodegeneration[@sepulvedafalla2014]
Absence of muscle atrophyPLS patients maintain muscle bulk
No fasciculationsLower motor neuron signs are absent
Slower progressionDisease course extends over decades
Preserved sensory examinationSensory function remains intact
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph