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Huntington disease-like syndrome due to C9ORF72 expansions

ORPHA: 401901

Contents

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

Overview

human disease

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 Huntington disease-like syndrome due to C9ORF72 expansions, sourced from HPO and Orphanet clinical annotations.

Inappropriate behaviorAtaxiaRigidityChoreaMemory impairmentCognitive impairmentPsychosisDepressionAnxietyParkinsonismDystoniaTremorUpper motor neuron dysfunctionMyoclonus

Classification & Codes

Orphanet Code

ORPHA:401901
Huntington disease-like syndrome due to C9ORF72 expansions
OrphanetORPHA:401901
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO