About Lysosomal Storage & Neuromuscular Disorders

Lysosomal Storage Disorders

Lysosomal Storage Disorders (LSDs) are caused by a lack of enzymes that normally get rid of unwanted substances in the cells of the body. These enzymes are found in sac-like structures within cells, called lysosomes.

The lysosome is the cell’s recycling center, breaking down unwanted material into simple products for re-use in the cell. When genetic mutations prevent these enzymes from working properly, a toxic buildup can occur in the lysosome, damaging cells and organs in the body, including the kidneys, liver, spleen, heart, lungs, brain, eyes, skin, and bones.

Depending on the type of neurogenetic disease, symptoms may vary. They can be severe and appear soon after birth, or mild and not appear until later in life.

The many LSDs we diagnose and manage include Gaucher, Tay-Sachs, Fabry, Niemann-Pick, Pompe, Canavan, Krabbe, metachromatic leukodystrophy, and themucopolysaccharidoses. NYU Langone treats one of the largest populations with Gaucher disease Type 1 in the country.

Neuromuscular Disorders

Congenital neuromuscular disorders are caused by mutations in the proteins that build and maintain muscle and nerve cells. They can become apparent both early in life, as well as in adulthood, and they result in symptoms that usually include weakness, loss of sensation, muscle atrophy, and trouble walking.

The genetic neuromuscular disorders we treat include inherited myopathies, neuropathies, congenital myasthenic syndromes, and muscular dystrophies.

For more information on treatment of these disorders at NYU Langone, click here.