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Myopathy
This document discusses the diagnostic approach to myopathies. It emphasizes that obtaining a comprehensive medical history is very important for diagnosis. The history should clarify the patient's symptoms, any family history of muscle disorders, precipitating factors, associated conditions, and distribution of weakness. Different myopathies are characterized by features like muscle pain, stiffness, weakness, or damage shown by myoglobinuria. Specific myopathies can be suggested based on the pattern of muscle involvement, such as proximal or distal weakness. The document provides tables matching myopathies to various clinical features to guide diagnosis.
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Myopathy
- 1. DR MOHAMMAD A.SKAMIL CONSULTANT NEUROLOGIST NEUROSCIENCES HOSPITAL
- 2. • MYOPATHIES AREA HETEROGENEOUS GROUP OF DISORDERS THAT CAN BE CHALLENGING TO DIAGNOSE. • THE PURPOSE OF THIS REVIEW IS TO PROVIDE A DIAGNOSTIC APPROACH BASED PREDOMINANTLY ON THE CLINICAL HISTORY AND NEUROLOGIC EXAMINATION. • IN APPROACHING THE EVALUATION OF A PATIENT WITH A SUSPECTED MYOPATHY, ONE OF THE MOST IMPORTANT COMPONENTS IS A COMPREHENSIVE MEDICAL HISTORY.
- 3. MYOPATHIES ARE DISORDERSAFFECTING channel structure Metabolism of skeletal muscle
- 4. Drug-induced myopathies Endocrine myopathies Inflammatory/immunemyopathies Myopathies associated with other systemic illness Toxic myopathies •Acquired Channelopathies Congenital myopathies Metabolic myopathies Mitochondrial myopathies Muscular dystrophies Myotonias •Hereditary
- 5. Which ‘‘positive’’ and/or‘‘negative’’ symptoms does the patient experience? What is the temporal evolution (presentation,episodic,constant,acute) Does the patient have a family history of a myopathic disorder? Are there precipitating factors that trigger episodic weakness or stiffness (drugs,exercise,fever,high carbohydrate,cold) Are any associated systemic symptoms or signs present (cardiac,respiratory,hepatomegaly,cataract,rash) What is the distribution of weakness?
- 6. SYMPTOMS ASSOCIATED WITH MYOPATHIESA Negative •Exerciseintolerance •Fatigue •Muscle atrophy •Weakness Positive •Cramps •Contractures •Muscle hypertrophy •Myalgia •Myoglobinuria •Stiffness
- 7. MUSCLE DISEASES ASSOCIATEDWITH MYALGIAS Eosinophilia-myalgia syndrome Hypothyroid myopathy Inflammatory myopathies (dermatomyositis, polymyositis) Infectious myositis (especially viral) Mitochondrial myopathies Myoadenylate deaminase deficiency Toxic myopathies (statins, chloroquine) Tubular aggregate myopathy X-linked myalgia and cramps (Becker dystrophy variant)
- 8. MYOPATHIES ASSOCIATED WITH MUSCLECONTRACTURES Brody disease Glycolytic/glycogenolytic enzyme defects Hypothyroid myopathy Paramyotonia congenita Rippling muscle disease
- 9. MYOPATHIES ASSOCIATED WITH MUSCLESTIFFNESS Hyperkalemic periodic paralysis Hypothyroid myopathy Myotonia congenita Myotonic dystrophy Paramyotonia congenita Proximal myotonic myopathy
- 10. CAUSES OF MYOGLOBINURIAA Drugsand toxins (especially alcohol) Heatstroke Inflammatory myopathies (rare) Limb-girdle muscular dystrophy types 2C, 2D, 2E, and 2F (sarcoglycanopathies) and 2I (FKRP) Neuroleptic malignant syndrome Metabolic myopathies Prolonged, intensive exercise Severe metabolic disturbances, including prolonged fever Trauma (crush injuries) Viral and bacterial infections
- 11. DRUGS THAT CANCAUSE TOXIC MYOPATHIES Inflammatory • Cimetidine • D-penicillamine • Procainamide • L-tryptophan • Levodopa Non inflammatory Necrotizing or Vacuolar • Alcohol • Cholesterol-lowering agents • Chloroquine • Colchicine • Cyclosporine and tacrolimus • Emetine • (-aminocaproic acid • Isoretinoic acid (vitamin A analogue) • Labetalol • Vincristine Rhabdomyolysis and Myoglobinuria • Alcohol • Amphetamine • Cholesterol-lowering drugs • Cocaine • Heroin • Toluene • (-aminocaproic acid Myosin Loss • Non depolarizing neuromuscular blocking agents • Steroid
- 12. Pattern recognition approach to myopathy Proximal Limb-Girdle DistalWeakness Distal Arm/Proximal Leg Weakness Proximal Arm/Distal Leg (Scapuloperoneal) Weakness Ptosis With or Without Ophthalmoparesis Extensor Weakness Prominent Neck Bulbar Weakness Episodic pain,weakness and myoglobinurea Episodic weakness delayed or unrelated to execise stiffness and Decreased Ability to Relax
- 13. MYOPATHIES CHARACTERIZED BY PREDOMINANTLYDISTAL WEAKNESS Centronuclear myopathy Debrancher deficiency Hereditary inclusion body myopathy Inclusion body myositis Myofibrillar myopathy Myotonic dystrophy Distal myopathies (Welander, Markes bery/Udd,Nonaka,Miyoshi,Liang)
- 14. SCAPULOPERONEAL PATTERN OF WEAKNESS Acidmaltase deficiency Central core myopathy Emery-Dreifuss humeroperoneal dystrophy Facioscapulo humeral dystrophy Limb-girdle dystrophy 2A(calpain), 2C-F (sarcoglycans),2I (FKRP) Nemaline myopathy Scapuloperoneal dystrophy
- 15. MYOPATHIES WITH PTOSIS OROPHTHALMOPARESIS Ptosis Without Ophthalmoparesis Congenital myopathies Nemaline myopathy Central core myopathy Desmin (myofibrillary) myopathy Myotonic dystrophy Ptosis With Ophthalmoparesis Centronuclear myopathy Mitochondrial myopathy Multicore disease Oculopharyngeal muscular dystrophy Oculopharyngodistal myopathy Neuromuscular junction disease (myasthenia gravis Lambert-Eaton myasthenic syndrome, botulism(
- 16. MYOPATHIES WITH PROMINENT NECKEXTENSOR WEAKNESS Isolated neck extensor myopathy Dermatomyositis Polymyositis Inclusion body myositis Carnitine deficiency Facioscapulohumeral dystrophy Myotonic dystrophy Congenital myopathy Hyperparathyroidism
- 17. MYOPATHIES WITH EPISODIC PAIN,WEAKNESS, AND MYOGLOBINURIA/RHABDOMYOLYSISA Related to Exercise ‘‘Couch potato’’ syndrome Glycogenoses (eg, McArdle disease) Lipid disorders (carnitine palmitoyltransferase deficiency) Not Related to Exercise Central non-neuromuscular causes : neuroleptic malignant ,status epilepticus Drugs/toxins Malignant hyperthermia Polymyositis/dermatomyositis (rarely) Viral/bacterial infections
- 18. EPISODIC WEAKNESS DELAYED ORUNRELATED TO EXERCISE Periodic paralysis Ca++ channelopathies (hypokalemic) Na++ channelopathies (hyperkalemic) Andersen-Tawil syndrome Secondary periodic paralysis (thyrotoxicosis) Other: Neuromuscular junction diseases
- 19. STIFFNESS/ DECREASED ABILITY TORELAX Improves With Exercise Myotonia: Na or Cl channelopathy Worsens With Exercise/Cold Paramyotonia: Na channelopathy Brody disease With Fixed Weakness Myotonic dystrophy (DM 1) Proximal myotonic myopathy (DM2) Becker disease (AR Cl channelopathy) Other Malignant hyperthermia Neuromyotonia Rippling muscle Stiff-person syndrome
- 20. DR MOHAMMAD A.SKAMIL CONSULTANT NEUROLOGIST NEUROSCIENCES HOSPITAL