1. F.Ahmadabadi MD Child Neurologist ARUMS OCT 3 2015
Myopathies
F.Ahmadabadi MD
Child Neurologist
ARUMS OCT

2. Myopathies follow a proximal distribution of weakness
DTRs are Diminished
Gowers sign is Positive
Lordotic Gait

3. Classisfication Congenital Myopathies Muscular Dystrophies
Inflamatory Myopathies
Metabolic Myopathies
Channelopathies

4. Congenital Myopathies
Myopathies With protein accumulation
Nemaline
Myopathies with Cores
Central Core , Multi mini core
Myopathies with central Nuclei
Myotubular , Centronuclear
Myopathies with Fiber size Variation
CMFTD

5. Congenital Myopathies Cont,
Clinical Symptoms
Manifest shortly after birth
Hypotonia
Static Myopathy
Mostly Proximal
DTRs Normal (or Decreased)
Poor Muscle Bulk
Dysmorphism
Lab Tests
CK Normal or mild increased
EMG:Short small action potential
Muscle Biopsy

6. Muscular Dystrophies
Duchenne (&Becker) Emery Dreiffus(SHP) Limb Girdle Fascioscapulohumeral Myotonic Dystrophy

7. Inflammatory Myopathies
Idiopathic(autoimmune)
Dermatomyositis
Infectious
Influenza
Trichinosis
Toxoplasma

8. Metabolic Myopathies Glycolytic/Glycogenolytic defects
Fatty acid oxidation
Mitochondrial myopathies
Carnitin Deficiencies

9. Channelopathies Hyper-Hypo & Normokalemic Paralysis
Mtyotonia Congenita
ParaMyotonia Congenita