Myopathy with lactic acidosis and sideroblastic anemia

Overview

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.

Symptoms

* Lactic acidosis * Sideroblastic anemia * Myopathy * Exercise intolerance * Ankle swelling * Breathlessness on exertion * Muscle weakness * Muscle wasting * Short nose * Scoliosis * Kyphosis * Small jaw * Long upper lip groove * High arched palate * Reduced muscle tone * Dystichiasis * Small head * Mental retardation * Delayed puberty

Diagnosis

* Fatigue: Related Home Tests: - Anemia Tests - Thyroid Function Tests - Adrenal Function Tests - Calcium Deficiency Tests - HIV Tests * Thyroid: Home Testing: - TSH Tests - Adrenal Function Tests * Adrenal Gland Health: Home Testing: