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Questions and Answers
What is the typical age range for the onset of myotonia dystrophica?
What is a characteristic facial feature of myotonia dystrophica?
What is a common laboratory finding in myotonia dystrophica?
What is a cause of inflammatory muscle disease (myositis)?
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What is a symptom of myotonia?
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What is a treatment for myotonia?
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What is a characteristic of myotonic features?
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What is a complication of myotonia dystrophica?
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What is a type of inflammatory muscle disease (myositis)?
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What is a feature of idiopathic polymyositis?
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Study Notes
Muscular Dystrophy
- Lack of dystrophin in muscle fibers
- EMG study:
- Increased polyphasic action potential
- Short duration of action potential
- Decreased amplitude of mean action potential
- Treatment:
- No specific drug treatment
- Supportive treatment:
- Vitamin E
- Physiotherapy to delay weakness and contractures
- Wearing light spinal supports and specific shoes
- Ventilatory support in late terminal stages
- Psychological support
- Infrequent course of methyl prednisolone (1mg/kg/day) for transient improvement of power
- Dealing with complications (e.g., bed sores, pneumonia)
- Genetic counseling before marriage
Myasthenia Gravis (MG)
- Definition: Chronic disease due to disorder of transmission at the myoneural junction
- Etiology: Production of autoantibodies against acetylcholine (Ach) receptors by thymus gland
- Clinical features:
- Muscular fatigability, may be restricted to a group of muscles
- Descending march course
- Tendency to relapse and remission
- Permanent weakness in later stages
- Diagnosis:
- Clinical diagnosis
- Therapeutic test: 2mg of Tensilon (anticholine esterase) injected IV
- Detection of serum anti-Ach receptor antibodies
- X-ray chest, CT chest to detect thymoma
- EMG study: decreased amplitude and decrementing response in CMAP
Myotonic Muscles Disorders
- Definition: Primary muscle disease characterized by myotonic phenomena (delayed relaxation of skeletal muscle after contraction)
- Clinical features:
- Slowness in relaxation of hand grip
- Persisting dimpling after sharp blow on a muscle belly
- Hereditary syndromes of myotonia:
- Myotonia congenita: Early age of onset, generalized myotonia, painless stiffness of muscles, feeding difficulty, strangled cry
- Myotonia dystrophica: Late age of onset, distal muscular dystrophy, trophic changes (e.g., cataract, frontal baldness, poor vision)
Inflammatory Muscles Diseases (Myositis)
- Acquired or idiopathic
- Clinically: muscle pain, tenderness, weakness, wasting
- Histopathologically: muscle fiber necrosis, regeneration, and interstitial inflammatory cell infiltration
- Types and causes:
- Infective agents (e.g., viral, bacterial, parasitic myositis)
- Connective tissue disease (e.g., rheumatoid arthritis, SLE)
- Idiopathic polymyositis and dermatomyositis: autoimmune, common in females, adult life
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Description
This quiz covers the diagnosis and treatment of muscular dystrophy, including EMG studies, DNA studies, and supportive treatments such as physiotherapy and vitamin supplements.
