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.
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Concept Alternate Designations
SDO Designation ID
Concept Designation Description
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Designation Type
PHIN Preferred Term Flag
Code Flag
3643803019
KLHL9-related early-onset distal myopathy
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Synonym
false
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3643808011
Kelch like family member 9 related early-onset distal myopathy