Myotonic Dystrophy Type 2 Overview

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Learn About Myotonic Dystrophy Type 2

What is the definition of Myotonic Dystrophy Type 2?
Myotonic dystrophy type 2, one of the two types of myotonic dystrophy, is an inherited muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, and pancreas). It is characterized by prolonged muscle tensing (myotonia) as well as muscle weakness, pain, and stiffness. Signs and symptoms usually develop during a person's twenties or thirties. Muscles in the neck, fingers, elbows, and hips are typically affected; facial and ankle muscles are less commonly involved. The severity of Myotonic dystrophy type 2 varies widely among affected people, even among family members. It is inherited in an autosomal dominant pattern and is caused by genetic changes in the CNBP gene.
What are the alternative names for Myotonic Dystrophy Type 2?
  • Myotonic dystrophy type 2
  • DM2
  • Dystrophia myotonica type 2
  • Myotonic myopathy, proximal
  • PROMM
  • Proximal myotonic myopathy
  • Ricker syndrome
Who are the top Myotonic Dystrophy Type 2 Local Doctors?
Elite in Myotonic Dystrophy Type 2
Dr. Nicholas E. Johnson
Neurology
Elite in Myotonic Dystrophy Type 2
Dr. Nicholas E. Johnson
Neurology

Ambulatory Care Center

417 N. 11th Street, 
Richmond, VA 
804-828-9350
Languages Spoken:
English
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Accepting New Patients
Offers Telehealth

Nicholas Johnson is a Neurologist in Richmond, Virginia. Dr. Johnson is rated as an Elite provider by MediFind in the treatment of Myotonic Dystrophy Type 2. His top areas of expertise are Paramyotonia Congenita, Myotonic Dystrophy, Myotonic Dystrophy Type 2, and Limb-Girdle Muscular Dystrophy. Dr. Johnson is currently accepting new patients.

Elite in Myotonic Dystrophy Type 2
Giovanni Meola
Elite in Myotonic Dystrophy Type 2
Giovanni Meola
Milan, IT 

Giovanni Meola practices in Milan, Italy. Mr. Meola is rated as an Elite expert by MediFind in the treatment of Myotonic Dystrophy Type 2. His top areas of expertise are Myotonic Dystrophy, Myotonic Dystrophy Type 2, Paramyotonia Congenita, Amyotonia Congenita, and Thymectomy.

 
 
 
 
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Elite in Myotonic Dystrophy Type 2
Stojan Z. Peric
Elite in Myotonic Dystrophy Type 2
Stojan Z. Peric
6, Dr. Subotic Sr. Street, 11 000, 
Belgrade, SE, RS 

Stojan Peric practices in Belgrade, Serbia. Peric is rated as an Elite expert by MediFind in the treatment of Myotonic Dystrophy Type 2. Their top areas of expertise are Paramyotonia Congenita, Myotonic Dystrophy, Myotonic Dystrophy Type 2, and Myasthenia Gravis.

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What are the latest Myotonic Dystrophy Type 2 Clinical Trials?
National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members
National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members
Enrollment Status: Recruiting
Publish Date: October 15, 2025

Summary: Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The purpose of this registry is to connect people with DM or FSHD with researchers studying these diseases. The registry will offer individuals with DM and FSHD an opportunity to participate in research that focuses of their disea...

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A Phase 1/Phase 2 Open-label Single Arm Study With Dose Escalation (Part A), and Dose Expansion (Part B) Parts to Evaluate the Safety, Tolerability, and Efficacy of SAR446268, an Adeno-associated Viral Vector-mediated Gene Therapy in Participants 10 to 50 Years Old With Non-congenital Myotonic Dystrophy Type 1
A Phase 1/Phase 2 Open-label Single Arm Study With Dose Escalation (Part A), and Dose Expansion (Part B) Parts to Evaluate the Safety, Tolerability, and Efficacy of SAR446268, an Adeno-associated Viral Vector-mediated Gene Therapy in Participants 10 to 50 Years Old With Non-congenital Myotonic Dystrophy Type 1
Enrollment Status: Recruiting
Publish Date: October 07, 2025
Intervention Type: Biological
Study Phase: Phase 1/Phase 2

Summary: This is a Phase 1/Phase 2 open-label single arm, multicenter, and multinational study with SAR446268 for treatment of male and female participants 10 to 50 years old with non-congenital myotonic dystrophy (DM) type 1 (DM1). The purpose of this study is to evaluate the safety and efficacy of SAR446268 in knocking down dystrophia myotonica protein kinase (DMPK) messenger ribonucleic acid (mRNA) leve...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center