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   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

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