Recommended
More Related Content
Similar to Approach to a patient of muscle disease with muscular dystrophy.pptx
Similar to Approach to a patient of muscle disease with muscular dystrophy.pptx (20)
Recently uploaded
Recently uploaded (20)
Approach to a patient of muscle disease with muscular dystrophy.pptx
- 1. Approach to a patient of muscle disease Dr. Ruchika Tandon Associate Professor Department of Neurology SGPGIMS, Lucknow
- 2. Terminology • Myopathy • Muscular dystrophy • Myositis- autoimmune or infectious • Myotonia- involuntary persistent muscle activity
- 4. History • Symptoms • Onset • Progress • Duration • Distribution of weakness • Precipitating factors • Associated symptoms • Family history
- 5. Symptoms • Weakness including cranial muscle weakness • Fatigue-metabolic and mitochondrial • Exercise intolerance • Muscle atrophy • Myalgia • Myotonia • Myoglobinuria
- 6. Symptoms Cramps • Normal, dehydration, hyponatremia, azotemia, myxedema, nerve or MND Contractures • Glycolytic/glycogenolytic enzyme defects, Myophosphorylase deficiency, Phosphofructokinase deficiency, Phosphoglycerate kinase deficiency, Phosphoglycerate mutase deficiency, Lactate dehydrogenase deficiency, Debrancher enzyme deficiency, Hypothyroid, Rippling muscle disease
- 8. Muscle pain • Toxic/drug-induced myopathies (statins) • Inflammatory myopathies (dermatomyositis, polymyositis) • Hypothyroid • Myotonic disorders • Mitochondrial • Infectious (viral) • Eosinophilia-myalgia syndrome • Muscular dystrophies (X-linked myalgia and cramps/Becker’s dystrophy variant)
- 9. Myoglobinuria • Prolonged intensive exercise • Drugs, toxins • Myophosphorylase deficiency • Carnitine palmitoyltransferase deficiency • Malignant hyperthermia • Heat stroke • Some muscular dystrophies • Neuroleptic malignant syndrome • Prolonged fever • Trauma (crush injuries) • Inflammatory myopathies
- 11. Onset and duration • Episodic – Periodic paralysis, metabolic myopathies • Constant – Inflammatory myopathies • Monophasic – Polymyositis, acute rhabdomyolysis • Relapsing
- 12. Age of onset • Birth – Congenital myotonic dystrophy , congenital myopathies, lipid storage diseases, glycogen storage diseases • Childhood – Some muscular dystrophies, inflammatory myopathies, congenital myopathies, LSD, GSD, mitochondrial myopathies, endocrine • Adulthood – Some muscular dystrophies – Polymyositis – Dermatomyositis – Inclusion body myositis – Acid maltase deficiency – Lipid storage diseases – Mitochondrial myopathies – Endocrine myopathies – Toxic myopathies – Myotonic dystrophy – Distal myopathies
- 13. Progress • Acute or subacute • Inflammatory myopathies (dermatomyositis and polymyositis) – Chronic • Muscular dystrophies • IBM – Non-progressive or very slowly progressive • Congenital myopathies
- 14. Examination- Weakness • Proximal • Distal- Myotonic dystrophy, IBM, Metabolic , Congenital, Late adult-onset distalmyopathy type 1 (Welander), Late adult-onset distal myopathy type 2 (Markesbery/Udd), Early adult-onset distal myopathy type 1 (Nonaka), Early adult-onset distal myopathy type 2 (Miyoshi), Early adult-onset distal myopathy type 3 (Laing)
- 15. Examination- Weakness • Scapuloperoneal (Scapuloperoneal dystrophy, Emery-Dreifuss dystrophy, LGMD1B, LGMD2A, LGMD2C–2F, Congenital myopathies, acid maltase deficiency, FSHD) • Distal arm with proximal leg weakness (IBM)
- 16. Examination- Weakness • Neck extensor weakness- isolated neck extensor myopathy, ALS, myasthenia gravis, polymyositis, dermatomyositis, inclusion body myositis, FSHD, myotonic dystrophy, congenital myopathy, hyperparathyroidism • Ptosis With or Without Ophthalmoplegia- OPMD, mitochondrial myopathies, myotonic dystrophy, congenital myopathies, myasthenia gravis, LEMS, botulism
- 17. Precipitating factors- Drugs and toxins • Cimetidine • D-penicillamine • Procainamide • L-tryptophan • L-dopa • Alcohol • Cholesterol lowering agents • Chloroquine • Colchicine • Cyclosporine and tacrolimus • Emetine • ε-aminocaproic acid • Isoretinoic acid (vitamin A analogue) • Labetalol • Vincristine • Amphetamine • Heroin • Toluene • Steroids
- 18. Associated features • Sensory symptoms • Systemic and general
- 19. Systemic examination • Cardiac – Kearns-Sayre syndrome, polymyositis, muscular dystrophies, myotonic, LGMD 1B, 2C-2F, 2G, Emery-Dreifuss“, DMD, BMD, myotonic, acid maltase deficiency • Respiratory – DMD, BMD, Emery-Dreifuss, LGMD, myotonic, congenital, acid maltase deficiency , mitochondrial, congenital , polymyositis
- 20. Systemic examination • Hepatomegaly – acid maltase deficiency, debranching enzyme, infectious disease, mitochondrial disorder • Rash
- 21. Family history • X-Linked (Duchenne, Becker, Emery-Dreifuss) • Autosomal Dominant (FSHD, LGMD, OPMD, Myotonic dystrophy, Periodic paralysis, Paramyotonia congenita, Thomsen disease) • Autosomal Recessive (LGMD, metabolic, Becker myotonia) • Maternal Transmission (mitochondrial)
- 22. Investigations • CPK (DMD, caveolinopathy, calpainopathy), dysferlinopathy, metabolic, inflammatory myopathies , channelopathies, ALS, SMA, postpolio syndrome, GBS, CIDP, viral Illness, drugs, hypothyroidism/ hypoparathyroidism, trauma , exercise, idiopathic) – Normal CK in steroid, collagen diseases, alcohol, hyperthyroidism, severe muscle wasting
- 23. Investigations • EMG • Muscle biopsy • Genetic studies • Muscle ultrasound
- 24. Treatment • Cause (steroids, disease modifying in inflammatory myopathies, symptomatic management in genetic causes, Gene therapy in DMD, mitochondrial coenzymes cocktail, hormone replacement in endocrine, toxin and drug withdrawal, treatment of viral infections, etc.) • Rehabilitation
- 25. Muscular dystrophy • Group of diseases- progressive weakness, muscle atrophy • Genetic • Many kinds • Mostly in childhood • Mostly in boys
- 26. Duchenne muscular dystrophy • Most common; boys • Girls can be carriers and mildly affected • Early childhood
- 29. Clinical features • Frequent falls • Difficulty rising from a lying or sitting position • Trouble running and jumping • Waddling gait • Walking on the toes • Large calf muscles • Muscle pain and stiffness • Learning disabilities • Delayed growth
- 32. Becker muscular dystrophy • Similar to Duchenne muscular dystrophy • Milder and progress slowly • Begin in teens; may manifest in mid-20s or later
- 33. Myotonic • Inability to relax muscles following contractions • Facial and neck muscles usually affected first • Long, thin faces; drooping eyelids; swanlike necks; frontal balding; cataracts
- 34. Facioscapulohumeral (FSHD) • Weakness begins in face, hip and shoulders • Shoulder blades stick out like wings when arms are raised • Onset usually occurs in teenage years but can begin in childhood or as late as age 50
- 35. Congenital • Affects boys and girls • Is apparent at birth or before age 2 • Some forms progress slowly, cause only mild disability; others cause severe impairment
- 36. Limb-girdle • Hip and shoulder muscles usually affected first • Difficulty lifting front part of the foot and so might trip frequently • Onset usually begins in childhood or teenage years
- 37. Compilcations • May eventually need to use a wheelchair • Daily activities difficult if arm and shoulder muscles are affected • Contractures further limit mobility • Scoliosis • Cardiac problems • Breathing muscles affected- may eventually need ventilator initially at night and later during the day • Swallowing difficulty- nutritional problems and aspiration pneumonia, feeding tubes