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?
Dr. Jeffrey W. Ralph
Neurology | Pediatrics
Dr. Jeffrey W. Ralph
Neurology | Pediatrics

Ucsf Medical Group Business Services

505 Parnassus Ave, M1490, 
San Francisco, CA 
 (24.6 mi)
415-472-1000
Languages Spoken:
English
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Jeffrey Ralph is a Neurologist and a Pediatrics provider in San Francisco, California. Dr. Ralph and is rated as an Advanced provider by MediFind in the treatment of Myotonic Dystrophy Type 2. His top areas of expertise are Peripheral Neuropathy, Guillain-Barre Syndrome, Chronic Polyradiculoneuritis, and Miller-Fisher Syndrome.

Dr. Kun J. Huang
Internal Medicine
Dr. Kun J. Huang
Internal Medicine
400 Evelyn Ave, Suite 107, 
Albany, CA 
 (20.7 mi)
510-524-4040
Experience:
43+ years
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Kun Huang is an Internal Medicine provider in Albany, California. Dr. Huang has been practicing medicine for over 43 years and is rated as an Experienced provider by MediFind in the treatment of Myotonic Dystrophy Type 2. Her top areas of expertise are Myositis, Dermatomyositis, Polymyositis, Vascular Ehlers-Danlos Syndrome (VEDS), and Lung Transplant.

 
 
 
 
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Dr. Robert D. Miller
Neurology
Dr. Robert D. Miller
Neurology
2324 Sacramento St, Suite 150, 
San Francisco, CA 
 (23.2 mi)
415-600-3604
Languages Spoken:
English
See accepted insurances

Robert Miller is a Neurologist in San Francisco, California. Dr. Miller and is rated as an Experienced provider by MediFind in the treatment of Myotonic Dystrophy Type 2. His top areas of expertise are Myasthenia Gravis, Emery-Dreifuss Muscular Dystrophy, X-Linked Dominant Scapuloperoneal Myopathy, and Walker-Warburg Syndrome.

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What are the latest Myotonic Dystrophy Type 2 Clinical Trials?
Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2 (BraCE-DM2)
Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2 (BraCE-DM2)
Enrollment Status: Recruiting
Publish Date: February 25, 2025
Intervention Type: Other

Summary: Nearly two-third of patients with myotonic dystrophy type 2 (DM2) report that impaired cognition is among the most disabling symptoms and deeply affects their quality of life. Yet, relatively little is known about how DM2 affects brain structure and cognitive function as brain imaging studies in DM2 are extremely limited. This is a prospective, cross-sectional study of brain structure and function...

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Pelvic Floor Muscle Training for Urinary Incontinence in Women with Myotonic Dystrophy Type 1: a Feasibility and Acceptability Study
Pelvic Floor Muscle Training for Urinary Incontinence in Women with Myotonic Dystrophy Type 1: a Feasibility and Acceptability Study
Enrollment Status: Recruiting
Publish Date: February 24, 2025
Intervention Type: Behavioral
Study Phase: Not Applicable

Summary: Myotonic dystrophy type 1 (DM1) is a neuromuscular disease characterized by multisystem manifestations. DM1 can affect the urinary system through the impact of the pelvic floor muscles (PFM). Urinary incontinence can occur in this situation and is often offset with compensatory measures without restoring the PFM function (e.g. sanitary pads). PFM training have already been shown to be effective in...

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Who are the sources who wrote this article ?

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