autosomal dominant distal myopathy KLHL9-related early-onset distal myopathy https://www.malacards.org/card/klhl9_related_early_onset_distal_myopathy GARD:0021655 KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life. MONDO:0018370 MEDGEN:1647584 UMLS:C4706574 SCTID:763776004 Orphanet:399081