Miyastenia gravis prof. Dr. Aytekin Akyüz

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

Neuromuscular Junction Disorders

• Defect in the transmission of the neurochemical signal across the neuromuscular junction

• Defect can take form of a problem in:

• Release of acetylcholine (Ach)
• Uptake of Ach,
• Insufficient receptor sites at the junction

Neuromuscular Junction Disorders

• Categorized as pre-synaptic or post-synaptic problem

• Examples:

• Myasthenia Gravis
• Post-synaptic receptor site disorder
• Myasthenia Syndrome
• Pre-synaptic calcium channel disorder
• Lambert-Eaton Syndrome
• Botulism
• Toxin prevents pre-synaptic release of Ach

Clinical picture:

• Clinical picture:

• Pronounced, rapid fatigue

• Associated muscle weakness

• Strength may be normal with a single repetition
• Repeated contractions lead to rapid fatigue

• DEFINITION disorders caused by cancer but not due to metastatic disease or non-metastatic mechanisms
• IMPORTANCE
• early detection of cancer

• save $$ in work-up

• DIAGNOSIS

• MAY DEVELOP BEFORE TUMOR Dx
• HIGH INDEX OF SUSPICION

• Dx OF EXCLUSION

• SPECIFIC TESTS MAY BE HELPFUL
• NEUROIMAGING
• CSF STUDIES
• ELECTROPHYSIOLOGY
• PET SCAN

• PNS OF THE NERVOUS SYSTEM

• CENTRAL NERVOUS SYSTEM

• PERIPHERAL NERVOUS SYSTEM

• NEUROMUSCULAR JUNCTION & MUSCLE