Myopathies PDF Presentation

MYOPATHIES By Shaimaa Shaheen Mohammed Assistant professor of Neurology, Faculty of Medicine, Cairo University. Myopathies Definition Etiology Clinical picture Investigation Treatment Myopathies Definition : Are gradual progressive degenerative diso...

MYOPATHIES By Shaimaa Shaheen Mohammed Assistant professor of Neurology, Faculty of Medicine, Cairo University. Myopathies Definition Etiology Clinical picture Investigation Treatment Myopathies Definition : Are gradual progressive degenerative disorders affecting the muscles. Muscular dystrophies: is a genetically determined gradual progressive degenerative disorders of the muscles.  Myopathies Etiology : 1. Genetic disorder (muscular dystrophies). 2. Endocrinal disorder: thyrotoxicosis, acromegaly, Cushing’s syndrome. 3. Carcinomatous: bronchogenic, ovarian tumors. 4. Metabolic: periodic paralysis. 5. Drug induced: steroids, chloroquine, vincristine. 6. Toxic: alcohol 7. Infection: trichnella spirallis. Myopathies Clinical picture: 1. Symptoms: - Clumsy gait. - Inability to climb stairs. - Protuberant abdomen. - Weakness and wasting of certain muscles (selectivity). Myopathies Signs: - Weakness of skeletal muscles which is: - Distribution: proximal > distal. - LMNL: hypotonia, hyporeflexia. - Symmetry: bilateral and symmetrical. - Weakness of proximal muscles leads to: winging of scapulae, pot-belly abdomen, exaggerated lumber lordosis, waddling gait , +ve Gower’s sign. Clinical picture con.. - Selectivity : in dystrophies (sternal head of pectoralis major is selectively weaker than the clavicular head). - Facial muscles are bilaterally affected in some types. - Psudo- hypertrophy seen in quadriceps, gastrocnemius in LL, and in deltoid, supra, infraspinatus in UL. - Contractures may be developed leads to bone deformity. - ECG changes in some types especially Duchene muscular dystrophy. - No sensory, sphincteric, no fasciculation.  Investigations Laboratory investigation: - Serum creatinine phosphokinase enzyme level which is markedly elevated in some types. - Urinary creatine level. Neurophysiology : - EMG (electromyogram) : diminished amplitude & duration of motor unit potential and early interference pattern. Other : muscle biopsy in dystrophinopathies. - MRI on muscles. Types of muscular dystrophies: Shoulder girdle muscular dystrophies: - Fascio-scapulohumoral myopathy (A.D) - Limb girdle muscular dystrophies (A.R) Pelvic girdle muscular dystrophies: - Psudo-hypertrophic type : Duchene , Becker muscular dystrophies ( x-linked recessive). - Atrophic type (A.R). Treatment Physiotherapy. Orthopedic surgery : tenotomy for contractures. Care of the bed ridden. Genetic counseling to detect the carrier state. Causes of death: Respiratory muscle weakness. Infection especially pneumonia. Cardiomyopathy. Myositis Definition. Etiology. Clinical picture. Investigation. Treatment. Myositis Definition : acquired autoimmune inflammatory disease of the skeletal muscles. Myositis Etiology: 1. Systemic infection. 2. Collagen disease 3. Immunization 4. Paraneoplastic.  Clinical picture: Onset: acute or subacute onset with general symptoms of fatigue. Pain & tenderness over the muscles. Weakness affecting : the proximal muscles of UL & LL. - The posterior neck muscles. - Pharyngeal & laryngeal muscles. Deep reflexes are intact. Skin manifestations in dermato-myositis type. Myositis Investigations: 1. Raised ESR. 2. Raised CPK. 3. EMG shows myopathic pattern with fibrillation. 4. Circulating antibodies (antinuclear antibodies, rhumatoid factor). Myositis Treatment : - Prednisolone 60mg daily. - Other immunosuppressive drugs. - Treatment of the cause.  Familial periodic paralysis: Definition: transient attack of paralysis results from alteration in serum potassium level. Hyopkalemic periodic paralysis Hyperkalemic periodic paralysis Precipitating factor -High carbohydrate diet. - cold. - Rest after exercise - Excersise. Onset Usually on awakening in the Immediately after excersise morning Clinical picture Weakness in LL then UL -Quadriplegia. No bulber/ respiratory function -myotonia Duration Hours to days Less than one hour Serum K level < 3mEq > 4.5mEq Treatment Kcl intravenous drip Ca gluconate I.V drip & Prophylactic acetazolmide 250mg glucose and insulin drip. daily Thiazide diuretics. Thank you