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MİYOPATİLER

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

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MİYOPATİLER

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  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

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

  4. 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

  5. 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

  6. 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

  7. 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

  8. Miyotonik Distrofi

  9. 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”

  10. Miyotonia Congenita

  11. 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

  12. 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

  13. 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

  14. 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

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

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

  17. 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

  18. 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

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

  20. Emery Dreifuss MD

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

  22. FSHD

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

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