Transcript MİYASTENİA GRAVİS - Cumhuriyet University

MİYOPATİLER
Prof.Dr.Aytekin Akyüz
CÜ Tıp Fak Nöroloji AD
Miyopatiler
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Largest group of neuromuscular diseases
Most diverse group
All show a loss of muscle fibers
 Proximal more than distal
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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)
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Most frequent neuromuscular disease
although it is relatively rare
► – Clinical signs and symptoms:
 Atrophy
 Weakness
 Involvement of the more distal muscles such as:
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– Face – Neck– Tongue – Intrinsics of
hands
and feet
Miyotonik Distrofi
Myotonic Congenita (Thomsen’s
Disease)
► Children
develop a characteristic
hypertrophy of the:
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Neck
Deltoid
Biceps
Triceps
Quadriceps, and
Gastrocnemius muscles – Child appears to be a
“Tiny Hercules”
Miyotonia Congenita
Periodic Paralysis
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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:
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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:
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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:
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Muscle weakness
Fatigue
Flexors more than extensors
Difficulty swallowing
Joint pain
Mild fever
Weight loss
Very diffuse erythema of face and neck
Müsküler Distrofi
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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
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 Therefore, only affects males
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Progressive
Rare for patients to live to the age of 30
Duchenne’s MD
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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
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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
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FSHD
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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