MİYOPATİLER

1. MİYOPATİLER Prof.Dr.Aytekin Akyüz CÜ Tıp Fak Nöroloji AD

2. Miyopatiler • Largest group of neuromuscular diseases • Most diverse group • All show a loss of muscle fibers • Proximal more than distal • No involvement of the anterior horn cell, nerve axon, or neuromuscular junction

5. Miyopatiler Includes 6 subcategories 1. Endocrine Disorders 2. Metabolic Disorders 3. Myotonias 4. Periodic Paralysis 5. Polymyositis 6. Muscular Dystrophy

6. Endocrine Disorders • Myopathies caused by some malfunction of the endocrine system • Chronic • Examples: – Addison’s Disease – Cushing’s Syndrome – Thyrotoxic Myopathy • Respond to drug therapy – Consists primarily of replacing the deficient hormones

7. Metabolic Disorders Myopathies characterized by a deficiency of a specific enzyme resulting in muscle weakness Examples: McArdle’s Disease: Deficiency of the muscle enzyme myophosphorylase Pompe’s Disease: deficiency in Acid Maltase

8. Miyotoniler • Hereditary myopathies • Result of a chromosomal mutation • Characterized by: Inability to relax a previously contracted muscle • Elicited by either voluntary contractions or some external stimuli such as percussion • Worsened by cold • Lessened by light exercise • Examples: Myotonic Congenita (Thomsen’s Disease) Myotonia Atrophic

9. Miyotonik Distrofi (Steinert’s Disease) • – Most frequent neuromuscular disease although it is relatively rare • – Clinical signs and symptoms: • Atrophy • Weakness • Involvement of the more distal muscles such as: • – Face – Neck– Tongue – Intrinsics of hands and feet

10. Miyotonik Distrofi

11. Myotonic Congenita (Thomsen’s Disease) • Children develop a characteristic hypertrophy of the: • Neck • Deltoid • Biceps • Triceps • Quadriceps, and • Gastrocnemius muscles – Child appears to be a “Tiny Hercules”

12. Miyotonia Congenita

13. Periodic Paralysis • Relatively rare myopathy • Hereditary – Autosomal dominant • Characterized by: • Transient flaccid paralysis or paresis affecting primarily the muscle of the proximal limbs • Attacks of weakness may last from a few seconds to several weeks • Involvement of a disruption in the serum K+ balance • Examples: • Hyperkalemic Form • Hypokalemic Form

14. Hiperkalemik Form • Has increased serum K+ • Triggered by: • Stress • Fasting • Cold • Rest following intensive or prolonged muscular exercise • Attacks minimized by: • Light exercise • Ingestion of carbohydrates

15. Hipokalemik Form • Has decreased serum K+ • Affects men more than women • Triggered by: • Stress • Fasting • Cold • Rest following intensive or prolonged muscular exercise • Alcohol consumption • High carbohydrate diets

16. Polimiyozit • Second most common myopathy in adults • Chronic inflammatory condition of striated muscle • Skin involved 50% of time – In this case its called Dermatomyositis • Insidious onset • Moderately progressive • Clinical signs: • Muscle weakness • Fatigue • Flexors more than extensors • Difficulty swallowing • Joint pain • Mild fever • Weight loss • Very diffuse erythema of face and neck

17. Müsküler Distrofi • Largest group of the myopathies • Group of inherited diseases • Characterized by: Progressive muscle weakness

18. Müsküler Distrofi • Pseudohypertrophic Muscular Dystrophy (Duchenne’s) • – Becker-type Muscular Dystrophy • – Facioscapulohumeral Muscular Dystrophy • – Limb-girdle Muscular Dystrophy

19. Duchenne’s Muscular Dystrophy • Also known as Pseudohypertrophic Muscular Dystrophy • Most common and most devastating dystrophy • X-linked • Therefore, only affects males • Progressive • Rare for patients to live to the age of 30

20. Duchenne’s MD • Clinical signs and symptoms: • Marked elevation in serum Creatine Kinase • Psuedohypertrophy of the calves • Tightness of the achilles • Hyperlordosis in the low back • Progressive atrophy and weakness of the pelvis and LEs • Gover’s sign

22. Becker-type Muscular Dystrophy • More benign form of Duchenne’s • Found more in older children • Progresses much slower • Children live to reach adulthood

23. Emery Dreifuss MD

24. Facioscapulohumeral Muscular Dystrophy • Autosomal dominant • Involves teenagers • Pattern of muscle weakness in face and shoulder girdle

25. FSHD

26. Limb-girdle Muscular Dystrophy • Autosomal recessive • Affects ages 20 – 30 • Pattern of muscle weakness of the proximal pelvic muscles and shoulder girdle