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KLHL9-related early-onset distal myopathy

ORPHA: 399081

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with KLHL9-related early-onset distal myopathy, sourced from HPO and Orphanet clinical annotations.

Distal sensory impairmentEMG: myopathic abnormalitiesAnkle flexion contractureWeakness of the intrinsic hand musclesProgressive distal muscle weaknessGait disturbanceAbnormal calf musculature morphologyImpaired vibration sensation in the lower limbsSteppage gaitAbsent patellar reflexesImpaired distal tactile sensationIntrinsic hand muscle atrophyAmyotrophy of ankle musculatureAbnormal circulating creatine kinase concentrationAbsent Achilles reflexLoss of ambulationPeripheral axonal neuropathy

Classification & Codes

Orphanet Code

ORPHA:399081
KLHL9-related early-onset distal myopathy
OrphanetORPHA:399081
Treatments0 drug(s)
Symptoms on record17 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO