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 mutations in the CAPN3 gene. Type 2A is the most common form of limb-girdle muscular dystrophy, accounting for about 30 percent of cases. Treatment is aimed at maintaining mobility and preventing complications. LGMD2A is also known as primary calpainopathy. Calpainopathies are diseases caused by mutations in the CAPN3 gene and can be autosomal recessive or autosomal dominant. There are three subtypes of autosomal recessive disorders associated with mutations in the CAPN3 gene which differ by the distribution of muscle weakness and age at onset:
  • 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. Onset is usually before age 12 or after age 30; 
  • Scapulohumeral LGMD (also known as Erb LGMD) usually has milder symptoms with infrequent early onset. 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.
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What are the alternative names for Rhabdoid Tumor Predisposition Syndrome?
  • LGMD2A
  • Calpainopathy
  • Limb-girdle muscular dystrophy type 2
  • LGMD2
  • Muscular dystrophy, pelvofemoral
  • Leyden-Moebius muscular dystrophy
Who are the top Rhabdoid Tumor Predisposition Syndrome Local Doctors?
Elite
Highly rated in
8
conditions

University Medical Center Hamburg Eppendorf

Hamburg, HH, DE 

Uwe Kordes is 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 8 other conditions, according to our data. His top areas of expertise are Rhabdoid Tumor Predisposition Syndrome, Rhabdoid Tumor, Choroid Plexus Carcinoma, and Cerebral Ventricle Cancer.

Distinguished
Highly rated in
32
conditions
Hematology Oncology

Memorial Sloan Kettering Cancer Center Physicians

New York, NY 

Mark Dickson is a Hematologist Oncology doctor in New York, New York. Dr. Dickson has been practicing medicine for over 19 years and is rated as a Distinguished doctor 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, Liposarcoma, Leiomyosarcoma, and Angiosarcoma. He is board certified in Hematology/oncology and Internal Medicine and licensed to treat patients in New York. Dr. Dickson is currently accepting new patients.

 
 
 
 
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Distinguished
Highly rated in
36
conditions
Oncology

Memorial Sloan Kettering Cancer Center

New York, NY 

Mrinal Gounder is an Oncologist in New York, New York. Dr. Gounder has been practicing medicine for over 18 years and is rated as a Distinguished doctor by MediFind in the treatment of Rhabdoid Tumor Predisposition Syndrome. He is also highly rated in 36 other conditions, according to our data. His top areas of expertise are Adult Soft Tissue Sarcoma, Epithelioid Sarcoma, Desmoid Tumor, and Liposarcoma. He is board certified in Medical Oncology and licensed to treat patients in Illinois and New York. Dr. Gounder is currently accepting new patients.

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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.