Clinico-Electrophysiological Profile and Pattern of Anterior Horn Cell Diseases: A Prospective Study from Eastern India

Abstract

Background: Anterior horn cell disease (AHD) refers to broad family of heterogeneous disorders that affect anterior horn cells of both childhood, adult and includes familial / sporadic or inflammatory/ immune disorders and others of undetermined case. Limited datas are available from eastern India despite disabling nature of the disease. Thus the present study is undertaken to evaluate clinical pattern, clinic-radiologic characteristics of AHD in eastern India and to find any factor which might be etiologically related. Method: This present study was conducted at Department of Neurology, S.C.B.Medical College &Hospital,Odisha a tertiary care centre in Eastern India. A total of 150 patients of anterior horn cell diseases were enrolled in the present study. The clinical characteristics including occupational history and various risk factors with detailed neurological examination were systematically recorded. Nerve Conduction Study and electromyography (EMG) has been conducted on RMS Neuro machine at this center. Results and Discussion: Out of 150 cases studied Amyotrophic lateral sclerosis (ALS), Progressive muscular atrophy (PMA), Spinal muscular atrophy (SMA), Post-polio syndrome (PPS), Monomelic Amyotrophy (MMA) constituted 72( 48%), 12(8%), 16(10.6%), 4(2.6%), 42(28%)cases respectively. Disease found to be more common in males except PPS variant where gender ratio found to be equal. Average duration of symptoms before presentation varies from 6 month - 3yr. Mean age of presentation found to be earlier in SMA (8.2yr) and MMA (22.5yr) and later (>40yrs) in rest patterns (ALS, PMA, PPS). Field and industrial working, h/o trauma or surgery were common environmental exposures in ALS, MMA subgroup of this cohort study. Familial associations found in SMA( 6,31%) and MMA( 1,2.4%) subgroups only .Limb onset were seen in117( 78%) cases and Bulbar onset in 14( 9.3%) cases. Neurogenic pattern of EMG seen in all subtypes of AHC diseases.MRI spine showed degenerative changes of cord in 15(10%) cases. Focal cord atrophy was found only in MMA in 3(2%) cases. Conclusion: ALS, MMA were common variant of AHD. Age of onset was later in ALS (>40yr) & PMA (>60yr). Familial association though rare, found in SMA, MMA group. Weakness &wasting were characteristic features in all types of AHD. Onset of Limb involvement was a major presentation in this study. Bulbar symptoms/signs found in ALS, PMA variety. Monomelic amyotrophy, a special variety of AHD found to be not rare in this part of India. Neurogenic EMG found in all variant AHD.