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