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What is Myopathy with lactic acidosis and sideroblastic anemia?

What is Myopathy with lactic acidosis and sideroblastic anemia?

  • Myopathy with lactic acidosis and sideroblastic anemia: A rare disorder of the bone marrow and skeletal muscles which manifests as muscle disease and anemia. Progressive intolerance to exercise usually starts during childhood with anemia occurring around adolescence.

Myopathy with lactic acidosis and sideroblastic anemia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Myopathy with lactic acidosis and sideroblastic anemia, or a subtype of Myopathy with lactic acidosis and sideroblastic anemia, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Myopathy with lactic acidosis and sideroblastic anemia as a "rare disease".
Source - Orphanet

Myopathy with lactic acidosis and sideroblastic anemia: Introduction

Types of Myopathy with lactic acidosis and sideroblastic anemia:

Broader types of Myopathy with lactic acidosis and sideroblastic anemia:

What causes Myopathy with lactic acidosis and sideroblastic anemia?

Causes of Myopathy with lactic acidosis and sideroblastic anemia: see causes of Myopathy with lactic acidosis and sideroblastic anemia

What are the symptoms of Myopathy with lactic acidosis and sideroblastic anemia?

Symptoms of Myopathy with lactic acidosis and sideroblastic anemia: see symptoms of Myopathy with lactic acidosis and sideroblastic anemia

Myopathy with lactic acidosis and sideroblastic anemia: Testing

Diagnostic testing: see tests for Myopathy with lactic acidosis and sideroblastic anemia.

Misdiagnosis: see misdiagnosis and Myopathy with lactic acidosis and sideroblastic anemia.

How is it treated?

Doctors and Medical Specialists for Myopathy with lactic acidosis and sideroblastic anemia: Medical Geneticist ; see also doctors and medical specialists for Myopathy with lactic acidosis and sideroblastic anemia.
Treatments for Myopathy with lactic acidosis and sideroblastic anemia: see treatments for Myopathy with lactic acidosis and sideroblastic anemia

Name and Aliases of Myopathy with lactic acidosis and sideroblastic anemia

Main name of condition: Myopathy with lactic acidosis and sideroblastic anemia

Other names or spellings for Myopathy with lactic acidosis and sideroblastic anemia:

Mitochondrial myopathy and sideroblastic anemia, MLASA, MSA, Myopathy with lactic acidosis and sideroblastic anaemia

MLASA, MSA (Mitochondrial myopathy and sideroblastic anemia), Mitochondrial myopathy and sideroblastic anemia
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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