运动神经元病PPT

Clinical features of als and other forms of motor neuron disease,1,运动神经元病（motor neuron disease MND）：是一组病因未明的选择性侵犯脊髓前角细胞、脑干后组运动神经元、皮质锥体细胞及锥体束的慢性进行性神经变性疾病。,2,SPECTRUM OF MOTOR NEURON DISEASE,Amyotrophic lateral sclerosis (ALS）Progressive muscular atrophy（PMA）Primary lateral sclerosis（PLS ）Progressive bulbar palsy （ PBP ）Flail arm syndromeFlail leg syndromeALS-plus syndrome,3,ALS is the most common form of motor neuron disease and includes upper and lower motor neuron pathology.PMA is a progressive lower motor neuron disorder. Some experts believe it represents a form of ALS .,4,PLS is a progressive isolated upper motor neuron disorder . Compared with ALS, it is characterized by slower progression, lack of weight loss, and absence of lower motor neuron findings on examination or electromyography in the first four years after symptom onset .PBP is a progressive upper and lower motor neuron disorder of cranial muscles. This condition may occasionally stay isolated to the bulbar segment, but more commonly, upper and lower motor neuron signs and symptoms spread to involve other segments.,5,Flail arm syndrome is characterized by progressive lower motor neuron weakness and wasting that predominantly affects the proximal arm. It usually begins proximally and spreads distally to the point where arm and hand function is severely impaired. It is often asymmetric.Flail leg syndromeis characterized by progressive lower motor neuron weakness and wasting with onset in the distal leg.ALS-plus syndrome some patients have all of the clinical features of ALS along with features of other disorders such as frontotemporal dementia, autonomic insufficiency, parkinsonism, supranuclear gaze paresis, and/or sensory loss.,6,CLINICAL SYMPTOMS AND SIGNS,The loss of motor neurons results in the primary clinical symptoms and signs of ALS. These may produce impairment affecting limb(table 1) ,bulbar (table 2) ,axial (table 3) and respiratory (table 4) function.,7,8,9,10,11,Initial presentation and patient complaints,Asymmetric limb weakness is the most common presentation of ALS (80 percent). Upper extremity onset is most often heralded by hand weakness but may begin in the shoulder girdle muscles. Lower extremity onset of ALS most often begins with weakness of foot dorsiflexion (foot drop), while proximal pelvic girdle onset is less common.,12,Upper motor neuron symptomsLower motor neuron symptomsCognitive symptomsAutonomic symptomsParkinsonism and supranuclear gaze palsySensory symptomsClinical patterns of progression,13,Cognitive impairment, typically related to frontotemporal executive dysfunction, may precede or follow the onset of upper motor neuron and/or lower motor neuron dysfunction in patients with ALS. Frontotemporal dementia may be associated with ALS in 15 to 50 percent of cases.Cognitive dysfunction does not exclude the diagnosis of ALS.,Cognitive symptoms,14,Autonomic symptoms, parkinsonism, supranuclear gaze paresis, and/or sensory loss may occur as part of an ALS-plus syndrome.,15,In patients with unilateral arm (leg) onset the most common pattern of spread is to the contralateral arm (leg), then to the ipsilateral leg (arm), then to the contralateral remaining leg (arm), and then to the bulbar muscles. In patients with bulbar onset the most common pattern of spread is to one arm and then to the contralateral arm .,Clinical patterns of progression,16,Diagnosis,The diagnosis of ALS is based upon clinical criteria that include the presence of upper motor neuron and lower motor neuron signs, progression of disease, and the absence of an alternative explanation.,17,Diagnostic criteria The clinical standard for the diagnosis of ALS is the revised El Escorial World Federation of Neurology crite,诊断依据：临床、肌电图或神经病理学检查有下运动神经元损害的证据临床检查有上运动神经元损害的证据症状或体征在一个部位内进行性扩展或扩展到其他部位同时排除以下两点有能解释上和（或）下运动神经元损害的其他疾病的电生理依据有能解释临床体征和电生理特点的其他疾病的神经影像学依据,18,The body is divided into four regions: cranial, cervical, thoracic and lumbosacral.Clinically Definite ALS is defined on clinical evidence alone by the presence of UMN, as well as LMN signs, in three regions.Clinically Probable ALS is defined on clinical evidence alone by UMN and LMN signs in at least two regions with some UMN signs necessarily rostral to (above) the LMN signs.Cinically Probable - Laboratory-Supported ALS is defined when clinical signs of UMN and LMN dysfunction are in only one region, or when UMN signs alone are present in one region, and LMN signs defined by EMG criteria are present in at least two limbs, with proper application of neuroimaging and clinical laboratory protocols to exclude other causes.Clinically Possible ALS is defined when clinical signs of UMN and LMN dysfunction are found together in only one region or UMN signs are found alone in two or more regions; or LMN signs are found rostral to UMN signs and the diagnosis of Clinically Probable - Laboratory-supported ALS cannot be proven by evidence on clinical grounds in conjunction with electrodiagnostic, neurophysiologic, neuroimaging or clinical laboratory studies. Other diagnoses must have been excluded to accept a diagnosis of Clinically possible ALS.Clin