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.
Save information for later
Sign Up
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?
UK
Uwe R. Kordes
Elite
Highly rated in
10
conditions

Universitaetsklinikum Hamburg Eppendorf

Hamburg, DE 

Uwe Kordes practices in Hamburg, Germany. Kordes is rated as an Elite expert by MediFind in the treatment of Rhabdoid Tumor Predisposition Syndrome. He is also highly rated in 10 other conditions, according to our data. His top areas of expertise are Rhabdoid Tumor Predisposition Syndrome, Rhabdoid Tumor, Cerebral Ventricle Cancer, Choroid Plexus Carcinoma, and Bone Marrow Transplant.

MD
Dr. Mark A. Dickson
Hematology Oncology
Distinguished
Highly rated in
33
conditions
Hematology Oncology

Memorial Sloan Kettering Cancer Center Physicians

353 E 68th St, 
New York, NY 

Mark Dickson is a Hematologist Oncology expert in New York, New York. Dickson has been practicing medicine for over 20 years and is rated as a Distinguished expert by MediFind in the treatment of Rhabdoid Tumor Predisposition Syndrome. He is also highly rated in 33 other conditions, according to our data. His top areas of expertise are Bone Tumor, Liposarcoma, Adult Soft Tissue Sarcoma, Epithelioid Sarcoma, and Endoscopy. He is licensed to treat patients in New York. Dickson is currently accepting new patients.

 
 
 
 
Learn about our expert tiers
Learn more
FE
Frederick C. Eilber
Dr. Frederick C. Eilber
Surgical Oncology | General Surgery | Vascular Surgery
Distinguished
Highly rated in
32
conditions
Surgical Oncology
General Surgery
Vascular Surgery

UCLA Health System

Surgical Oncology Center

200 Ucla Medical Plz, 
Los Angeles, CA 

Frederick Eilber is a Surgical Oncologist and a General Surgeon in Los Angeles, California. Eilber has been practicing medicine for over 28 years and is rated as a Distinguished expert by MediFind in the treatment of Rhabdoid Tumor Predisposition Syndrome. He is also highly rated in 32 other conditions, according to our data. His top areas of expertise are Adult Soft Tissue Sarcoma, Epithelioid Sarcoma, Liposarcoma, and Fibrosarcoma. He is licensed to treat patients in California.

View All Doctors
What are the latest Rhabdoid Tumor Predisposition Syndrome Clinical Trials?
Familial Investigations of Childhood Cancer Predisposition
Enrollment Status: Recruiting
Publish Date: May 13, 2022

Summary: NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility...

Match to trials
Find the right clinical trials for you in under a minute
Get started
View All Clinical Trials
Who are the sources who wrote this article ?

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

What are the Latest Advances for Rhabdoid Tumor Predisposition Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.