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Learn About Limb-Girdle Muscular Dystrophy Type 2A

What is the definition of Limb-Girdle Muscular Dystrophy Type 2A?
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 Limb-Girdle Muscular Dystrophy Type 2A?
  • 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 Limb-Girdle Muscular Dystrophy Type 2A Local Doctors?

Brigham And Womens Hospital

75 Francis St, 
Boston, MA 
 (20.0 mi)
Languages Spoken:
English, Spanish
Accepting New Patients
Offers Telehealth

Anthony Amato is a Neurologist in Boston, Massachusetts. Dr. Amato and is rated as an Advanced provider by MediFind in the treatment of Limb-Girdle Muscular Dystrophy Type 2A. His top areas of expertise are Inclusion Body Myositis, Myositis, Polymyositis, Thymectomy, and Gastrostomy. Dr. Amato is currently accepting new patients.

Internal Medicine
Internal Medicine
695 Truman Pkwy, Suite 209, 
Boston, MA 
 (14.4 mi)
Languages Spoken:
English

Steven Carr is an Internal Medicine provider in Boston, Massachusetts. Dr. Carr and is rated as an Advanced provider by MediFind in the treatment of Limb-Girdle Muscular Dystrophy Type 2A. His top areas of expertise are Myotonic Dystrophy Type 2, Myotonic Dystrophy, Paramyotonia Congenita, and Muscle Invasive Bladder Cancer.

 
 
 
 
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2 Dudley St, Suite 555, 
Providence, RI 
 (23.4 mi)
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Michelle Mellion is a Neurologist in Providence, Rhode Island. Dr. Mellion and is rated as an Advanced provider by MediFind in the treatment of Limb-Girdle Muscular Dystrophy Type 2A. Her top areas of expertise are Alcoholic Neuropathy, Myotonic Dystrophy Type 2, Myotonic Dystrophy, and Paramyotonia Congenita. Dr. Mellion is currently accepting new patients.

What are the latest Limb-Girdle Muscular Dystrophy Type 2A Clinical Trials?
Journey: A Global, Multicenter, Longitudinal Study of the Natural History of Subjects With Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), Type 2C (LGMD2C/R5), and Type 2A (LGMD2A/R1)

Summary: This study will follow participants who are screened and confirmed with a genetic diagnosis of Limb-girdle muscular dystrophy type 2E (LGMD2E/R4), Limb-girdle muscular dystrophy type 2D (LGMD2D/R3), Limb-girdle muscular dystrophy type 2C (LGMD2C/R5), or Limb-girdle muscular dystrophy type 2A (LGMD2A/R1). These enrolled participants will be followed to evaluate mobility and pulmonary function for u...

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