Question: How many people are affected by neutral lipid storage disease with myopathy ?
Answer: Neutral lipid storage disease with myopathy is a rare condition; its incidence is unknown.
Source: GHR

Question: What are the genetic changes related to neutral lipid storage disease with myopathy ?
Answer: Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy. The PNPLA2 gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides. Triglycerides are an important source of stored energy in cells. These fats must be broken down into simpler molecules called fatty acids before they can be used for energy. PNPLA2 gene mutations impair the ATGL enzyme's ability to break down triglycerides. These triglycerides then accumulate in muscle and tissues throughout the body, resulting in the signs and symptoms of neutral lipid storage disease with myopathy.
Source: GHR

Question: Is neutral lipid storage disease with myopathy inherited ?
Answer: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Source: GHR

Question: What are the treatments for neutral lipid storage disease with myopathy ?
Answer: These resources address the diagnosis or management of neutral lipid storage disease with myopathy: - Genetic Testing Registry: Neutral lipid storage disease with myopathy - MedlinePlus Encyclopedia: Hypothyroidism - MedlinePlus Encyclopedia: Type 2 Diabetes These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR