1. A Child with proximal weakness F.Ahmadabadi MD Child Neurologist

2. Causes of weakness Cerebral Anterior horn Myelopathy Neuropathy Neuromuscular junction Myopathy

3. Myopathies 1.Dystrophies Genetic-Regeneration & degeneration-Progressive 2.Congenital Myopathies 3.Metabolic MyopathiesMetabolic 4.Inflammatory MyopathiesInflammatory

4. Metabolic Myopathies GSD´s – Fixed Weakness: (2-3-12) – Exercise intolerance: (5-7-8-9-10-11-13) Fatty acid Oxidation – LCAD – CPT(II) – VLCAD – MCAD Hypoketotic Hypoglycemia – SCHAD – ACAD9 Mitochondrial Myopathies

5. Inflammatory Myopathies Idiopathic – Juvenile Dermatomyositis – Polymyositis – Inclusion body Myositis – Overlap syndrome MCTD Scleroderma SLE Rheumatoid arthritis Sjogren syndrome – Others Eosinophilic myositis Focal nodular Myositis Sarcoid Myopathy Infectious – Viral Influenza HIV Others(Cox-CMV-HSV...) – Parasitic Trichinosis Toxoplasmosis Cysticercosis – Bacterial – Fungal

6. Approach to Dark urine Changes in Urine Color Blood +RBC + Upper Urinary Tract Lower Urinary Tract RBC _ Hemoglubinuria Myoglubinuria Blood - Foods- Drugs…

7. Causes of Myoglubinuria (GSD) 1.Glycolysis/Glycogenesis (GSD) (CPTII) 2.Fatty acid Oxidation (CPTII) 3.Pentose phosphate pathway 4.Purine nucleotide cycle 5.Mitochondrial Respiratory chain 6.Abnormal Composition of Sarcolemma 7.Famillial recurrent myoglubinuria

8. About our Case 1.Viral Myositis 2.Glycolysis/Glycogenolysis(5-7) 3.CPT(II) Mild type 4.VLCAD

9. Management 1.Hydration & Diuresis (±Alkalizations) 2.CPK-LDH-Aldolase 3.EMG-NCV 4. Forearm ischemic test(FIT) 5.ANA-ANCA- 6.Muscle Biopsy