MİYOPATİLERMİYOPATİLER

Prof.Dr.Aytekin AkyüzProf.Dr.Aytekin Akyüz

CÜ Tıp Fak Nöroloji ADCÜ 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 subcategories1. Endocrine Disorders2. Metabolic Disorders3. Myotonias4. Periodic Paralysis5. Polymyositis6. 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 myophosphorylasePompe’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 CongenitaMiyotonia 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 MDEmery Dreifuss MD

Facioscapulohumeral Muscular Dystrophy

► Autosomal dominant► Involves teenagers► Pattern of muscle weakness in face

and shoulder girdle

FSHDFSHD

Limb-girdle Muscular Dystrophy

► Autosomal recessive► Affects ages 20 – 30► Pattern of muscle weakness of the

proximal pelvic muscles and shoulder girdle