New Online Tool Accelerates Diagnosis of Muscular Dystrophies

 

SEATTLE—The Jain Foundation and LGMD2I Research Fund announce the release of ALDA (Automated LGMD Diagnostic Assistant), their updated and expanded Limb-Girdle Muscular Dystrophy (LGMD) subtyping tool.

 

LGMDs are genetic diseases that cause progressive muscle weakness, sometimes involving the heart and central nervous system. The more than 26 different types of LGMD have differing symptoms, progression rates, and inheritance patterns. Patients rely on physicians to narrow down their diagnosis among these LGMD subtypes and other causes of muscle weakness, including polymyositis and Pompe disease. “Unfortunately, the rarity of each individual disease and the sheer number of LGMD subtypes makes diagnoses challenging for many neurologists, who may see just one new case annually,” says Dr. Plavi Mittal, Jain Foundation president. “It’s critical for muscular dystrophy patients to receive accurate diagnoses, both for proper disease management and to advance therapeutic research.” Accurate diagnosis can take years, and misdiagnoses compromise patient safety, result in inappropriate treatment options, and hinder research into new therapies.

 

ALDA uses a state-of-the-art algorithm developed by the Jain Foundation to help physicians determine a patient’s LGMD subtype based on clinical and laboratory findings. ALDA’s predictions and recommendations for genetic testing help physicians arrive at genetically-confirmed diagnoses in a fraction of the usual time. Dr. Carla Grossman, a neurologist at Rady Children’s Hospital in San Diego, praises ALDA, saying, “I have found ALDA very useful and have been telling other physicians about it. Future eligibility for clinical trials in LGMD may be dependent on the specific mutation, so genetic confirmation [of disease subtype] is essential.” ALDA is already being used by 200 neurologists worldwide.

 

ALDA includes all LGMD subtypes identified through mid-2013, as well as a number of other muscle diseases whose symptoms mimic those of LGMDs. ALDA is freely available to clinicians at: http://www.jain-foundation.org/lgmd-subtyping-tool/

 

 

ABOUT THE JAIN FOUNDATION

The Jain Foundation (www.jain-foundation.org) is a privately funded not-for-profit focused on finding a therapy for muscular dystrophies caused by dysferlin deficiency (LGMD2B/Miyoshi Myopathy).

 

ABOUT THE LGMD2I RESEARCH FUND

The LGMD2I Research Fund (www.lgmd2ifund.org) is a not-for-profit focused on expediting the development of a treatment or cure for Limb Girdle Muscular Dystrophy 2I (LGMD2I).