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myopathy due to calsequestrin and SERCA1 protein overload

ORPHA: 88635

Contents

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

Overview

Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms

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 myopathy due to calsequestrin and SERCA1 protein overload, sourced from HPO and Orphanet clinical annotations.

MyopathyElevated circulating creatine kinase concentration

Classification & Codes

Orphanet Code

ORPHA:88635
myopathy due to calsequestrin and SERCA1 protein overload
OrphanetORPHA:88635
Treatments0 drug(s)
Symptoms on record2 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO