医学精品课件:myopathy and MG20141225 .ppt
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- 医学精品课件:myopathy and MG20141225 医学 精品 课件 myopathy
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1、MyopathiesDepartment of NeurologyTongji HospitalEmail:Min ZhangCase 1 21 years old,female patient Progressive generalized muscle weakness for 8 years The patient began to notice weakness in the hips and increasing difficulty in arising 8 years ago.Six months later the weakness advanced to the knees
2、and she could arise only by climbing up her legs.”Twelve months later,she felt extreme weakness in her shoulders and upper arms so that she gradually became unable to comb her hair or even lift her arms to shoulder level.Case 1 Difficulty of locomotion slowly became more pronounced until at the time
3、 of admission.There were never any symptoms of tremor,spasticity,sensory or sphincter disturbances.No history of similar disease in her family.Case 1 Marked atrophy of the shoulder girdle and thighs,winged scapula and waddling gait.Tendon reflexes decreased bilaterally.No impairment of superficial a
4、nd deep sensibility.CK 13503 u/LDiagnosis?Introduction Myology Common diseases Affecting all ages Complexity of pathogenesis New diseases to be identifiedCommon manifestations Weakness Atrophy Pseudohypertrophy Myalgia(muscle pain)and cramp Fatigability Topography of myopathic weakness Ocular palsy:
5、ptosis,diplopia,strabismus Bifacial palsy:smile,expose the teeth,close the eyes Bulbar palsy:dysphonia,dysarthria,dysphagia Cervical palsy:hold the head erect,lift the head from the pillow Weakness of respiratory and trunk muscleTopography of myopathic weakness Bibrachial palsy:hands,arms,shoulders
6、Bicrural palsy:lower leg weakness,inability to walk on the toes/heels Limb-girdle palsy:inability to raise the arms or arise from squatting,kneeling or sitting position Distal bilateral limb palsy:foot drop General paralysisChanges of muscle bulk Myalgia and cramp Spontaneous,symmetrical,proximal Se
7、vere pain:Cramp Over exercise Metabolic factors:hypocalcaemia,glycogen storage disease Medication:Statin,Captopril MyotoniaCommon myopathies Muscular dystrophies Inflammatory myopathies Disorders of neuromuscular junction Metabolic myopathies Endocrine myopathies Toxic myopathies Others Progressive
8、muscular dystrophiesBasic concept Hereditary myopathies Heterogeneity:diversity of gene mutations and presentations Muscular degeneration No effective treatment availableClassification of PMDX-linked:Duchenne muscular dystrophy(DMD)Becker muscular dystrophy(BMD)Emery-Dreifuss muscular dystrophy(EDMD
9、)Autosomal dominant:Facioscapulohumeral muscular dystrophy(FSHMD)Myotonic dystrophy Distal muscular dystrophy Oculopharyngeal muscular dystrophy Congenital muscular dystrophyAutosomal rescessive:Limb-girdle muscular dystrophy(LGMD)Congenital muscular dystrophyMuscular degeneration Progressive muscul
10、ar necrosis Increases in CK and LDH Fat infiltration of muscles Limited regeneration of myofibers No inflammatory responseNormal muscleDegeneration and regenerationDuchenne muscular dystrophy X-linked,recessive The most common and severe Gene defects:dystrophin gene Lack of dystrophin Muscular degen
11、eration Dystrophin expressions a:normalb:BMDc:DMDd:carrier Clinical presentations(1)Boys affected Age at onset:2-5 yrs Symptoms:frequent falling weakness of limb-girdles Clinical presentations(2)Signs:pseudohypertrophy of calves muscle weakness of girdles:Gowers sign Waddling gait Winged scapula Har
12、d to walk with heelPseudohypertrophy Winged scapula Gowers sign Needing hands when standing from supine position,because of pelvic-girdle weaknessGowers signClinical presentations(3)EKG abnormalities Seral enzymes:10100 fold increases in LDH and CK EMG:myopathic(low amp.,poly-phasic APs)Biopsy:muscu
13、lar degeneration regenerationDMD Biopsy 1DMD Biopsy 2Diagnosis Family history Clinical manifestation Enzymes EMG Biopsy Dystrophin IHC,genetic testingCourse and prognosis Onset:25 yrs Bedridden:1220 yrs Die:1820 yrsGenetic consultations Female:carrier Male siblings:have chance to be the suffers Fema
14、le siblings:,carrierTreatment Glucocorticoids significantly slow progression of DMD up to 3 yrs.Gene therapyGene therapy dystrophin gene vector animal models(mdx)evaluation Introduction of dystrophin geneCase 1 21 years old,female patient Progressive generalized muscle weakness for 8 years The patie
15、nt began to notice weakness in the hips and increasing difficulty in arising 8 years ago.Six months later the weakness advanced to the knees and she could arise only by climbing up her legs.”Twelve months later,she felt extreme weakness in her shoulders and upper arms so that she gradually became un
16、able to comb her hair or even lift her arms to shoulder level.Case 1 Difficulty of locomotion slowly became more pronounced until at the time of admission.There were never any symptoms of tremor,spasticity,sensory or sphincter disturbances.No history of similar disease in her family.Case 1 Marked at
17、rophy of the shoulder girdle and thighs,winged scapula and waddling gait.Tendon reflexes decreased bilaterally.No impairment of superficial and deep sensibility.CK 13503 u/LDiagnosis?Inflammatory myopathiesCase 2 male,68 years old.Progressive weakness of limbs,accompanied by atrophy for 2 years.EMG:
18、myopathic pattern.Muscle enzymes:CK:3500u/L.Muscle biopsy:profound necrosis,regeneration and inflammatory cell infiltration.Diagnosis:?Treatment:?Different forms of inflammatory myopathies Infective:Parasitic:Trichinosis Toxoplasmosis Fungal Viral Idiopathic Common idiopathic inflammatory myopathies
19、 Dermatomyositis(DM)Polymyositis(PM)Inclusion body myositis Other immunological related myositis Eosinophilic fasciitisPM and DM PM:inflammation restricts in striate muscle DM:accompanied by skin lesion Different at immunological process and pathologyPM and DM Idiopathic Subacute or chronic Symmetri
20、cal Weakness Proximal limb and trunk muscles Dermatomyositis:with dermatitisEtiology and pathogenesis Unknown Infection Autoimmune mechanism:DM:CIC,IgG,IgM,C3 and membrane-attack complexes are deposited in the walls of vessels PM:CD8,MHC-1Common clinical features Onset:usually insidious,preceding hi
21、story Subacute or chronic The course progressive over a period of several weeks or months Symmetrical weakness Proximal limb and trunk muscles Neck,larynpharyngeal muscles Respiratory muscles can be involved in severe cases No involvment of extraocular muscles Common clinical features Impairment of
22、other organs:Cardiac abnormalities:sudden death Myocarditis Arrhythmia Interstitial pneumoniaSkin lesions of DM Skin lesion usually preexisted weakness Forms of expression:dermatitis Localized or diffused erythema Maculopapular eruption(斑丘疹)Scaling eczematoid dermatitis(脱屑性湿疹样皮炎)Exfoliative dermatit
23、is(剥脱性皮炎)Features:Patches of a scaly roughness over the extensor surfaces of joints;Heliotrope changes in skin over eyelid,cheeks and forehead.Photosensitivity:V sign;Shawl sign Maybe transient Skin lesions of DMRed,raised papules presented over exposed surface such as distal and proximal Interphala
24、ngeal joint:Gottrons papulesOther features of DM Periarticular and subcutaneous calcifications Concurrent connective tissue disease The Raynaud phenomenon SclerodermaSpecial forms of DM DM of childhood Concurrent CTD Concurrent carcinoma:lung and colon cancer in men breast and ovarian cancer in wome
25、n NPC DM of childhood A distinctive syndrome Intermittent low-grade fever A greater involvement of blood vessels Acute gastric or enteric perforation CREST Calcinosis Raynaud phenomenon esophageal involvement sclerodactyly(指趾硬皮病)telangiectasia(毛细血管扩张)Concurrent CTDRheumatoid arthritisSclerodermaLupu
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