Genetic Testing Provides Answers and Hope

When Kathy Payette was in eighth grade, she started experiencing unexplained muscle weakness. Over a period of three years in the mid-1970s, she visited several doctors, all of whom were puzzled by her symptoms. When she was 17, Kathy spent a week at the Mayo Clinic with a team of doctors who concluded she had . . .

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LGMD – Criss Hartzell, Ph.D.

Criss Hartzell, professor of cell biology at Emory University School of Medicine in Atlanta, Ga., was awarded an MDA research grant to elucidate the mechanisms underlying type 2L limb-girdle muscular dystrophy (LGMD), caused by mutations in the ANO5 gene. Hartzell will examine the role the ANO5 protein plays in trafficking and fusion of cell membranes . . .

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Delaware State Goodwill Ambassador

Jessica Albanese, Age 16 New Castle, DE Home and Family Jessica lives with her parents, younger sister Victoria, and their chocolate lab. Diagnosis Jessica was diagnosed with Limb-Girdle Muscular Dystrophy in 2008 at the MDA clinic at A.I. duPont Hospital in Wilmington. Limb-girdle muscular dystrophy (LGMD) is a group of disorders affecting voluntary muscles, mainly . . .

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Indiana State Goodwill Ambassador

Noah Tompkins, Age 15 Bloomington, IN Home and Family Noah is the son of Darla and Doug Tompkins. He has two brothers. Diagnosis Noah was diagnosed with Limb-girdle muscular dystrophy (LGMD) in October 2015. Limb-Girdle muscular dystrophy isn’t one disease. It’s a group of disorders affecting voluntary muscles, mainly those around the hips and shoulders. . . .

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Wyoming State Goodwill Ambassador – Anthony McCumber

Anthony McCumber, Age 10 Bar Nunn, WY Home and Family Anthony lives with his mom and stepdad, Darshee and Derek Buist, his sister Terra, and stepbrothers Xavier and Zayden. Diagnosis Anthony is diagnosed with Limb-Girdle Muscular Dystrophy. Limb-Girdle muscular dystrophy isn’t one disease. It’s a group of disorders affecting voluntary muscles, mainly those around the . . .

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Wyoming State Goodwill Ambassador – Terra McCumber

Terra McCumber, Age 9 Bar Nunn, WY Home and Family Terra lives with her mom and stepdad, Darshee and Derek Buist, her brother Anthony, and stepbrothers Xavier and Zayden. Diagnosis Terra is diagnosed with Limb-Girdle Muscular Dystrophy. Limb-Girdle muscular dystrophy isn’t one disease. It’s a group of disorders affecting voluntary muscles, mainly those around the . . .

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Five Questions with Researcher Criss Hartzell

Criss Hartzell, professor of cell biology at Emory University School of Medicine in Atlanta, Ga., recently was awarded an MDA research grant to study the ANO5 gene. Mutations in the gene have been implicated in both type 2L limb-girdle muscular dystrophy (LGMD) and a subtype of Miyoshi distal muscular dystrophy (a type of distal muscular dystrophy, . . .

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MDA to Offer Genetic Testing for Limb-Girdle Muscular Dystrophy

MDA, Genzyme and Emory University team up to expand access to genetic testing for accurate diagnosis of limb-girdle muscular dystrophy CHICAGO, March 26, 2015 — The Muscular Dystrophy Association announced today that thanks to a grant from Genzyme, a Sanofi company, and in collaboration with Emory Genetics Laboratory, MDA clinics are now offering genetic testing . . .

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