Acid Sphingomyelinase Deficiency (ASMD)

Understanding Acid Sphingomyelinase Deficiency (ASMD)

Acid Sphingomyelinase Deficiency (ASMD) is a rare genetic disorder that impairs the body’s ability to break down sphingomyelin—a type of fat found in cells. When sphingomyelin accumulates, it can lead to harmful fat buildup in various organs, particularly the liver, spleen, lungs, and brain, resulting in progressive organ dysfunction.

Common Signs and Symptoms of ASMD:

• Hepatosplenomegaly:

  • Enlargement of the liver and spleen, which may cause abdominal discomfort or a feeling of fullness.

• Pulmonary Involvement:

  • Respiratory issues such as shortness of breath, recurrent lung infections, or reduced exercise tolerance due to fat accumulation in the lungs.

• Neurological Symptoms:

  • In more severe forms, symptoms may include developmental delays, motor difficulties, or other signs of neurological impairment.

• Growth and Developmental Issues:

  • In children, delayed growth or failure to thrive can be observed.

• General Symptoms:

  • Fatigue, joint pain, or muscle weakness that may impact daily activities.

This information is provided as a resource and is not intended to diagnose a condition or prescribe treatment. Please discuss any symptoms you may exhibit with your physician.