Autosomal dominant hereditary disorder
Distal muscular dystrophy
||
Kelch like family member 9 related early-onset distal myopathy (disorder)
KLHL9-related early-onset distal myopathy
Kelch like family member 9 related early-onset distal myopathy
A rare genetic distal myopathy with characteristics of 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.
vroeg optredende KLHL9-gerelateerde distale myopathie
juveniele KLHL9-gerelateerde distale myopathie
Id763776004
StatusPrimitive
Associated morphologyDystrophy
Finding siteSkeletal muscle structure
Pathological processPathological developmental process
Associated morphologyDystrophy
Finding siteSkeletal muscle structure
OccurrenceChildhood
Clinical courseProgressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified