Save information for later
Sign Up

Learn About Rhabdoid Tumor Predisposition Syndrome

What is the definition of Rhabdoid Tumor Predisposition Syndrome?
Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive limb-girdle muscular dystrophy characterized by progressive, symmetrical weakness of the proximal limb and girdle muscles (mainly those around the hips and shoulders) without heart involvement or intellectual disability. The condition is caused by genetic changes in the CAPN3 gene. Type 2A is the most common form of limb-girdle muscular dystrophy, accounting for about 30 percent of cases. LGMD2A is also known as primary calpainopathy. Calpainopathies are diseases caused by genetic changes in the CAPN3 gene and can be autosomal recessive or autosomal dominant. Pelvifemoral limb-girdle muscular dystrophy (also known as Leyden-Mobius LGMD) is the most frequently observed subtype. In these cases, muscle weakness is first evident in the pelvic girdle and later in the shoulder girdle. In most cases, muscle weakness is first evident in the shoulder girdle and later in the pelvic girdle; HyperCKemia is usually observed in children or young individuals. In most cases, those affected do not have symptoms, just high levels of creatine kinase in their blood.
What are the alternative names for Rhabdoid Tumor Predisposition Syndrome?
  • Limb-girdle muscular dystrophy type 2A
  • Muscular dystrophy limb girdle type 2A, Erb type
  • Calpainopathy
  • LGMD2
  • LGMD2A
  • Leyden-Moebius muscular dystrophy
  • Limb-girdle muscular dystrophy type 2
  • Muscular dystrophy, pelvofemoral
Who are the top Rhabdoid Tumor Predisposition Syndrome Local Doctors?
Mark A. Dickson
Distinguished in Rhabdoid Tumor Predisposition Syndrome
Hematology Oncology | Hematology | Oncology
Distinguished in Rhabdoid Tumor Predisposition Syndrome
Hematology Oncology | Hematology | Oncology

Memorial Solid Tumor Group

160 E 53rd St, 
New York, NY 
Languages Spoken:
English
Offers Telehealth

Mark Dickson is a Hematologist Oncology specialist and a Hematologist in New York, New York. Dr. Dickson is rated as a Distinguished provider by MediFind in the treatment of Rhabdoid Tumor Predisposition Syndrome. His top areas of expertise are Adult Soft Tissue Sarcoma, Liposarcoma, Undifferentiated Pleomorphic Sarcoma, Gastrointestinal Stromal Tumor, and Endoscopy.

Todd W. Bauer
Distinguished in Rhabdoid Tumor Predisposition Syndrome
Surgical Oncology
Distinguished in Rhabdoid Tumor Predisposition Syndrome
Surgical Oncology

University Of Virginia Physicians Group

1215 Lee St, 
Charlottesville, VA 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Todd Bauer is a Surgical Oncologist in Charlottesville, Virginia. Dr. Bauer is rated as a Distinguished provider by MediFind in the treatment of Rhabdoid Tumor Predisposition Syndrome. His top areas of expertise are Cholangiocarcinoma (Bile Duct Cancer), Pancreatic Cancer, Neuroendocrine Tumor, Hepatectomy, and Pancreaticoduodenectomy. Dr. Bauer is currently accepting new patients.

 
 
 
 
Learn about our expert tiers
Learn More
Elite in Rhabdoid Tumor Predisposition Syndrome
Elite in Rhabdoid Tumor Predisposition Syndrome
Hamburg, HH, DE 

Uwe Kordes practices in Hamburg, Germany. Mr. Kordes is rated as an Elite expert by MediFind in the treatment of Rhabdoid Tumor Predisposition Syndrome. His top areas of expertise are Rhabdoid Tumor Predisposition Syndrome, Rhabdoid Tumor, Cerebral Ventricle Cancer, Choroid Plexus Carcinoma, and Small Bowel Resection.

What are the latest Rhabdoid Tumor Predisposition Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

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