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

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

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

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

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

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

Miyotonik Distrofi

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”

Miyotonia Congenita

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

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

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

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

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

Müsküler Distrofi

► Pseudohypertrophic Muscular Dystrophy (Duchenne’s) ► – Becker-type Muscular Dystrophy ► – Facioscapulohumeral Muscular Dystrophy ► – Limb-girdle Muscular Dystrophy

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

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

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

Emery Dreifuss MD

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

FSHD

Limb-girdle Muscular Dystrophy

► ► Autosomal recessive Affects ages 20 – 30 ► Pattern of muscle weakness of the proximal pelvic muscles and shoulder girdle