Limb-Girdle Muscular Dystrophy type R5/2C (LGMD R5/2C)

Infographic explaining LGMD R5/2C, a rare genetic muscle disorder caused by SGCG gene mutation, leading to muscle fiber breakdown, early signs like difficulty walking, and progression to heart and lung issues, affecting 0.12 per million worldwide.

What is LGMD R5/2C

Limb-Girdle Muscular Dystrophy type R5/2C (LGMD R5/2C) is an ultra-rare genetic disease caused by mutations in the SGCG gene, which prevents the body from producing gamma-sarcoglycan, a critical protein that helps protect muscle cells from damage during contraction. Without it, muscle fibers progressively break down faster than the body can repair them, leading to worsening muscle weakness, loss of mobility, and reduced quality of life. The disease typically begins in the large muscles of the hips and shoulders, making running, climbing stairs, and walking increasingly difficult, and can eventually affect the heart and lungs. Symptoms usually appear in childhood or adolescence, and many children lose the ability to walk in their second decade of life. Recent prevalence research suggests LGMD R5/2C may be even rarer than previously believed, with an estimated prevalence of just 0.12 per million people worldwide.

Infographic titled "The Earliest Signs" explaining signs of muscular dystrophy in children, with images of a boy tired, climbing stairs, jumping, and laboratory test equipment; includes Samy's journey with medical tests and CK levels, and information about CK (creatine kinase) enzyme, early detection, and tips for recognizing signs.

The Earliest Signs

A child who tires more easily than others. Trouble climbing stairs. Difficulty jumping. Muscle enzymes, creatine kinase, that are dangerously elevated, were discovered by accident after an unrelated hospital visit.
That's how Samy's journey began. A febrile seizure at nine months old led to a blood test that changed everything. His CK was over 15,000. Normal is under 200.
By the time parents notice something is wrong, the disease has often been silently progressing for months or years. Early detection matters, but with a disease this rare, most doctors never think to look for it.