mİyopatİler prof.dr.aytekin akyüz cÜ tıp fak nöroloji ad
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MİYOPATİLERMİYOPATİLER
Prof.Dr.Aytekin AkyüzProf.Dr.Aytekin Akyüz
CÜ Tıp Fak Nöroloji ADCÜ Tıp Fak Nöroloji AD
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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
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Miyopatiler
Includes 6 subcategories1. Endocrine Disorders2. Metabolic Disorders3. Myotonias4. Periodic Paralysis5. Polymyositis6. Muscular Dystrophy
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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
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Metabolic Disorders
Myopathies characterized by a deficiency of a specific enzyme resulting in muscle weakness
Examples:McArdle’s Disease: Deficiency of the muscle
enzyme myophosphorylasePompe’s Disease: deficiency in Acid Maltase
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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
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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
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Miyotonik Distrofi
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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”
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Miyotonia CongenitaMiyotonia Congenita
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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
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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
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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
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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
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Müsküler Distrofi
► Largest group of the myopathies► Group of inherited diseases► Characterized by:
Progressive muscle weakness
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Müsküler Distrofi
►Pseudohypertrophic Muscular Dystrophy (Duchenne’s)
►– Becker-type Muscular Dystrophy►– Facioscapulohumeral Muscular
Dystrophy►– Limb-girdle Muscular Dystrophy
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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
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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
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Becker-type Muscular Dystrophy
► More benign form of Duchenne’s► Found more in older children► Progresses much slower► Children live to reach adulthood
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Emery Dreifuss MDEmery Dreifuss MD
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Facioscapulohumeral Muscular Dystrophy
► Autosomal dominant► Involves teenagers► Pattern of muscle weakness in face
and shoulder girdle
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FSHDFSHD
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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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