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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?
Distinguished in Rhabdoid Tumor Predisposition Syndrome
Distinguished in Rhabdoid Tumor Predisposition Syndrome

Tertiary Specialists Of Practice Associates PA

100 Madison Ave, 
Morristown, NJ 
 (20.0 mi)
Languages Spoken:
English
Offers Telehealth

James Wittig is an Orthopedics provider in Morristown, New Jersey. Dr. Wittig and is rated as a Distinguished provider by MediFind in the treatment of Rhabdoid Tumor Predisposition Syndrome. His top areas of expertise are Osteosarcoma, Adult Soft Tissue Sarcoma, Ewing Sarcoma, Hip Replacement, and Knee Replacement.

Experienced in Rhabdoid Tumor Predisposition Syndrome
Radiation Oncology
Experienced in Rhabdoid Tumor Predisposition Syndrome
Radiation Oncology

Practice Associates Medical Group

651 Willow Grove St, 
Hackettstown, NJ 
 (9.8 mi)
Languages Spoken:
English
Offers Telehealth

Yana Goldberg is a Radiation Oncologist in Hackettstown, New Jersey. Dr. Goldberg and is rated as an Experienced provider by MediFind in the treatment of Rhabdoid Tumor Predisposition Syndrome. Her top areas of expertise are Endometrial Cancer, Endometrial Stromal Sarcoma, Cervical Cancer, and Neuroendocrine Carcinoma of the Cervix.

 
 
 
 
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Experienced in Rhabdoid Tumor Predisposition Syndrome
Surgical Oncology
Experienced in Rhabdoid Tumor Predisposition Syndrome
Surgical Oncology

Practice Associates Medical Group

100 Madison Ave, 
Morristown, NJ 
 (20.0 mi)
Languages Spoken:
English
Accepting New Patients

Lee Starker is a Surgical Oncologist in Morristown, New Jersey. Dr. Starker and is rated as an Experienced provider by MediFind in the treatment of Rhabdoid Tumor Predisposition Syndrome. His top areas of expertise are Colorectal Cancer, Familial Pancreatic Cancer, Familial Colorectal Cancer, Small Bowel Resection, and Pancreatectomy. Dr. Starker is currently accepting new patients.

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