Rare Genetic

Oct 16, 2024

Pompe disease is a rare genetic disorder that presents a spectrum of severity, with varying rates of progression and ages of onset. Symptoms can appear anywhere from infancy to late adulthood, with earlier onset generally associated with more rapid progression and increased severity. At all ages, the disease is mar...

Aug 11, 2016

Spinal Muscular Atrophy (SMA) is a rare genetic and neuromuscular condition which affects mainly children. It has several distinct types such as type 1 (Werdnig-Hoffmann disease), type 2 (Dubowitz disease), type 3 (Kugelberg-Welander disease) and type 4 (Adult onset). SMN1 (Survival Motor Neuron 1) is the primary ge...