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Limb Girdle Muscular Dystrophy LGMD
-Autosomal dominant (type 1) or autosomal recessive ( type 2) inheritance. -The onset ranging from late of the first decade to the fourth decade. -Progressive weakness of pelvic and shoulder girdle musculature , Gower's sign positive.
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- Respiratory insufficiency from weakness of the diaphragm, and cardiomyopathy may occurs also.
- Serum CK level less elevated than in the Duchenne's muscle dystrophy - EMG shows myopathic pattern.
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Facioscapulohumeral (FSH ) Muscular Dystrophy
-Autosomal dominant -The onset in the childhood or young adulthood. -Facial weakness appear as an inability to smile, whistle or fully close the eyes. -Weakness of shoulder girdles which is usually brings the patient to medical attention.
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• loss of scapular stabilizer muscles make arm
elevation difficult and scapular winging become apparent with attempts to abduction and forward movement of the arms. • Biceps and triceps muscles severely affected with relative sparing of the deltoid muscle .
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- 20 % of patient the weakness progresses to involve the pelvic girdle muscles
-Serum CK level may be normal or mildly elevated - EMG indicates myopathic pattern •Treatment No specific treatment is available
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Ocular Dystrophy -Typically autosomal dominant, Autosomal recessive and sporadic cases also occur - Onset before the age of 30years - Ptosis is the earliest manifestation - Progressive external ophthalmoplegia - Facial muscle weakness also common - Subclinical involvement of limb muscle may occur
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Oculopharyngeal Dystrophy
- Autosomal dominant . - The onset in the third to fifth decade . - Ptosis, total external ophthalmoplegia. - Dysphagia , facial weakness and often proximal muscle weakness . - Serum CK is mildly elevated . - Dysphagia may require nasogastric tube or by gastrostomy for feeding .
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Distal Myopathy - Autosomal dominant, autosomal recessive or sporadic . - Onset after age of 40years . - Small muscles of hand and feet , wrist extensor and dorsiflexor of feet are affected .
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Emery – Dreifuss Muscular Dystrophy
-X- linked recessive , mutation in emerin gene . - Onset from childhood to late adolescence or adulthood. -Weakness affect first the upper arm and pectoral girdle muscles later pelvic girdle and distal muscles in lower extremities.
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-The distinguishing feature is the early appearance of contractures in the flexors of elbow ,extensor of the neck ,and calf muscles . Facial muscles are affected occasionally - Severe cardiomyopathy with variable sinoaterial and aterioventricular conduction defects .
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Myotonia Abnormality of muscle fiber membrane leading to marked delay of relaxation after contraction causing apparent muscle stiffness . ▪On examination -Difficulty in relaxing the hand after sustained grip .
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- Persistent contraction after percussion of the belly of the muscle .
- EMG show characteristic high-frequency discharge of potential that wax and wane in amplitude and frequency .
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Myotonic Dystrophy -Autosomal dominant .
-The onset in the third or fourth decade and may appear in early childhood . -Hatchet-face appearance due to facial muscle atrophy and weakness . -Frontal baldness . -sternocliedomastoids and distal limb muscle are involved early .
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- Weakness of wrist extensors .
- Finger extensor and intrinsic hand muscle impair function . -Ankle dorsiflexor weakness may cause foot drop - Palatal, pharyngeal and tongue involvement produce dysartheric speech and swallowing problems . - Cataract, Diabetes mellitus, testicular atrophy, cardiac and intellectual defect .
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Treatment Is treatment of myotonia by Quinine sulphate 300mg-400mg tds or procainamide 0.5-1g/qd or phenytoin 100mg tds
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Myotonia congenita 1-Autosomal dominant ((thomsen's disease)) mutation in chromosome 7 . -Generalized myotonia , the symptoms may not appear until early childhood -Muscle stiffness enhanced by cold and inactivity, relieved by exercise . -Muscle hypertrophy sometime pronounced
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Treatment 2-Autosomal recessive form
Later onset, slight weakness, and atrophy of distal muscle . Treatment Is treatment of myotonia .
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Metabolic Myopathy Osteomalacia: characterized by proximal muscle weakness with bone pain and tenderness mild decrease in serum ca++ and increased ALK phosphatase . Treatment with vit D Acute or chronic hypo or hyperkalemia leading to proximal muscle weakness reversed by correcting the metabolic disturbances .
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Periodic Paralysis Syndromes
May be familial, autosomal dominant . -Episodes of flaccid weakness or paralysis . -The power is normal between the attacks . Hypokalemic periodic paralysis - Occurs at adolescence - Men are affected more than women because of decrease penetrance in women
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-It may associated with thyrotoxicosis
-The attacks provoked by meals high in carbohydrate or sodium or after prolong exercise -Weakness usually affect proximal limbs muscles more than distal muscles -Ocular and bulbar muscles are less likely to be affected -Respiratory muscles are usually spared but when involved may be fatal
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-Life threatening cardiac arrhythmias related to hypokalemia may occur during the attack .
-The weakness may take as long as 24 hours to resolve. Diagnosis of Hypo KPP -A low serum potassium level during an attack with excluding secondary causes establish the diagnosis .
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-Interattacks muscle biopsies show the presence of single or multiple centrally placed vacuoles or tubular aggregates . -EMG shows electrical silence in severely weak muscle . Treatment of Hypo KPP -The acute paralysis improve by oral KCL ( mmol/kg) should be given every 30min . -Only rarely is IV therapy necessary (e.g. swallowing problem or vomiting) .
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And mannitol is preferred vehical for administration of IV potassium .
Prophylaxis -low carbohydrate, low-sodium diet and avoid intense exercise . -Acetazolamide ( mg/day) in divided doses by beneficial effect of metabolic acidosis. -If weakness persist oral KCL should be added .
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-Spironolactone (25-100mg/day) may be used.
-Thyrotoxicosis if present should be treated also.
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Hyperkalemic Periodic Paralysis (Hyper KPP)
-The attacks of weakness are precipitated by potassium administration is the best definition of the disease ((the patients are often normokalemic during attacks )) . -The onset is in the first decade . -The attacks brief and mild lasting 30min to 4 hours .
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-Some times associated with myotonia without weakness but the muscle stiff, painful aggravated by cold . Diagnosis of Hyper KPP -Serum potassium may be slightly elevated but may be normal during the attack. -Muscle biopsy shows vacuole that are smaller, less numerous and more peripheral than in the Hypo KPP .
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Treatment of Hyper KPP Prevention
Treatment of acute attack by calcium Gluconat IV, diuretics ((furosemide 20-40mg)) or Glucose IV fluid . Prevention Acetazolamide or chlorothiazide. mexiletine may be helpful in patient with significant myotonia .
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Normokalemic Periodic Paralysis
Affected patients are sensitive to K ingestion and have episodes of mild weakness that occur without any change in serum K . Treatment of normo KPP Treatment with large dose of Na alleviate the weakness .
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Inflammatory myopathy
Polymyositis and Dermatomyositis Characterized by distruction of muscle fibers and inflammatory cells infiltration of the muscles . - occur at any age . - low grade fever, muscle pain, tenderness and wasting affect proximal limb and girdle muscles .
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- Arthralgia , malaise , weight loss , dysphagia, respiratory difficulties .
- Raynaud phenomena may occur . - In dermatomyositis there is erythematous rash around the eyes and eyelids ((heliotrop rash)) -May be associated with autoimmune diseases e.g. scleroderma, SLE and Rh artheritis . - In adult it may associated with cancer . -Serum CK level elevated, if normal dont exclude the diagnosis . -EMG shows myopathic pattern .
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Treatment With steroid prednisolone 60-80mg/day and when improvement occur and CK decreased the dose of prednisolone decrease to 10-20mg/day for 2-3years; azathioprine or methotrexate used in steroid resistant patient.
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Polymyalgia Rhumatica
-More in women above 50years . -Muscles pain and stiffness about the neck and girdle muscles . -Headache, Anorexia, weight loss and low grade fever . -Serious complication may occur such as Giant cell arteritis . -Raised ESR . -Enzyme, EMG and muscle biopsy are normal .
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Treatment Endocrine myopathy Prednisolone 10-15mg/d for one year .
- hyper or hypothyroidism . - Hyper or hypoparathyroidism . - Hyper or hypoadrenalism . - Hypopituitarism . - Acromegaly .
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Drug induced myopathy - Steroid - Chloroquine - Clofibrate
- B-Blockers - Colchicine - Zidovudine
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