ABSTRACT
Background and Objective: Most of the existing qualitative facial nerve grading systems are very subjective while the quantitative grading systems are more complex, require longer data input time and specific software. There is a need for having a scoring system with graphic criteria to improve the subjectivity, reliability and convenience. We aimed to develop and validate such a reliable graphic scale for use in Bell's palsy. Methods: Face videos of patients with unilateral facial paralysis were recorded using smartphones and analyzed for six items including five voluntary facial movements apart from complications of facial palsy (synkinesis, hyperkinesis, and contracture). 15 videos were used for pilot study, 75 for the development of scale and 110 for its validation. Each video was rated on two separate occasions by 3 independent raters, a score of 0-4 was assigned to each item using the graphic scoring criteria, and a composite score was obtained (range 0-24). Five disease severity categories: normal (score 0), mild (score 1-6), moderate (score 7-12), severe (score: 13-18) and profound facial weakness (score: 19-24). Results: The proposed scale and its component items had high inter-rater and intra-rater reliability (Kappa >0.7). Good correlation (Pearson co-efficient >0.7) was seen among the voluntary movements. The proposed scale is a valid tool to score motor deficits and complications of facial palsy. Conclusions: The proposed scale is a valid and reliable graphic scale to describe facial motor dysfunction and its secondary defects.
ABSTRACT
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is clinically and genetically heterogeneous. There are no published series describing clinical, electrophysiological, and genetic information on CMT from the Indian subcontinent. Magnetic resonance imaging (MRI) neurography technique provides useful information about the plexus and roots and can be employed in patients with CMT. SETTINGS AND DESIGN: A prospective, observational study carried out at a tertiary care hospital in Western India. SUBJECTS AND METHODS: CMT patients fulfilling the UK Genetic Testing Network criteria were included. They underwent clinical, electrophysiological, radiological, and multigene panel testing. RESULTS: Totally 22 patients (19 males, 3 females; 18 sporadic and 4 familial cases) were studied. Pes cavus (19), hammer toes (16), and scoliosis was seen in 1 patient. Electrophysiology revealed motor predominant neuropathy with 15 demyelinating (10 uniform and 5 multifocal) and 7 axonal patterns. Thickened lumbosacral plexuses on MRI neurography were evident in 6/10 studied patients, all 6 having demyelinating neuropathy. Genetic analysis identified PMP22, GJB1, SH3TC2, HSPB1, SPTLC2, MPZ, AARS, and NEFH gene mutations. CONCLUSIONS: This small series documents the pattern of CMT neuropathies as seen in Western India. Clinico-electrophysiological and genetic diagnosis showed general concordance some overlaps and reiterated advantages of gene panel testing in this heterogeneous group of neuropathies. MRI neurography was useful as an additional investigation to detect nerve enlargement in patients with demyelinating neuropathies.
