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congenital muscular dystrophy-dystroglycanopathy type A

ORPHA: 352687

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Classification & Codes

Overview

muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has material basis in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing

Available Treatments (0)

No treatments linked yet

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

Classification & Codes

Orphanet Code

ORPHA:352687
congenital muscular dystrophy-dystroglycanopathy type A
OrphanetORPHA:352687
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO