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Table of Contents    
CASE REPORT
Year : 2013  |  Volume : 61  |  Issue : 6  |  Page : 653-655

Chin fasciculations in Madras motor neuron disease: A new clinical feature


Department of Neurology, Institute of Human Behaviour and Allied Sciences, New Delhi, India

Date of Submission26-Nov-2013
Date of Decision26-Nov-2013
Date of Acceptance03-Dec-2013
Date of Web Publication20-Jan-2014

Correspondence Address:
Mandaville Gourie-Devi
Department of Neurology, Institute of Human Behaviour and Allied Sciences, New Delhi - 110 095
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.125275

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 » Abstract 

The characteristic features of Madras motor neuron disease (MMND) are onset in the young in the first two decades, sporadic occurrence, facial and bulbar paralysis, sensorineural hearing impairment, asymmetrical weakness of limbs and pyramidal signs with a slow progression. The majority of the cases reported are from South India. MMND variant has the additional features of optic atrophy and cerebellar signs. We are reporting a 48 year old female of MMND who had persistent fasciculations of chin, with electromyographic features of fasciculations and fibrillations in mentalis muscle. Chin fasciculations, a rare clinical feature, is now described for the first time in Madras motor neuron disease adding a new feature to the clinical constellation of symptoms


Keywords: Bilateral facial paralysis, chin fasciculations, Madras motor neuron disease, sensorineural deafness, tongue atrophy


How to cite this article:
Gourie-Devi M, Maheshwari S, Panda AK, Bala K. Chin fasciculations in Madras motor neuron disease: A new clinical feature. Neurol India 2013;61:653-5

How to cite this URL:
Gourie-Devi M, Maheshwari S, Panda AK, Bala K. Chin fasciculations in Madras motor neuron disease: A new clinical feature. Neurol India [serial online] 2013 [cited 2018 Dec 12];61:653-5. Available from: http://www.neurologyindia.com/text.asp?2013/61/6/653/125275



 » Introduction Top


Madras motor neuron disease (MMND), a sporadic disorder in young adults, is mostly reported in South Indian population. The first description was by Meenakshisundaram et al. [1] from Madras. The distinctive features of MMND include asymmetrical weakness and wasting of limb muscles, pyramidal signs, involvement of lower cranial nerves and facial muscles and association of bilateral perceptive deafness and slow prolonged course. [2] Subsequent to the first description, more cases were described from Madras and Bangalore in South India, [3],[4],[5] a few from other regions of India [6],[7],[8] and isolated case reports from other countries. [9],[10],[11],[12] Additional features of optic atrophy and cerebellar signs were described in the MMND variant (MMNDV). [13] We report chin fasciculations, a new feature, in a patient of MMND, expanding the clinical spectrum of this disorder.


 » Case Report Top


A 48 year old female, eldest of 5 siblings, born to non-consanguineous parents, resident of Bihar presently staying at Delhi for the last 20 years, was first seen in May 2012 at our institute with progressive slurring of speech and nasal intonation of 5 months duration. She noted occasional choking sensation, excessive salivation and weak cough and took more time to eat due to difficulty in bolus formation. There was also history of difficulty in drinking beverages using straw, in blowing and in keeping mouthful of water as in gargling. There was no history of diurnal variation. Four months later she noticed mild distal weakness of right upper limb without wasting, stiffness or sensory symptoms. She noted occasional fasciculations in right arm and scapular area. There was no history of loss of vision, diplopia, bowel, bladder, cerebellar or autonomic nervous system involvement. Memory and behavior were normal. There was no family history of similar or any other neurological disorder. Neurologic examination of her 32-year-old son was normal.

Neurological examination showed normal cognitive functions, dysarthria, bilateral atrophy of tongue, fasciculations, flaccidity and weakness of movements of tongue, weak gag reflex and bilateral lower motor neuron facial weakness involving lower face more than upper part. Ocular movements and pharyngeal sensation were normal. There was no hearing loss and all other cranial nerves were normal. Prominent chin fasciculations seen as dimpling of chin [Figure 1]a were noted during the hospital stay and were persistent almost throughout the day. They were coarse, confined to the chin particularly to the mentalis muscle without spread to other facial muscles. Fasciculations were present at rest and increased on voluntary action as blowing cheeks or smiling [Figure 1]b. Motor system examination showed normal bulk, tone and power in all limbs except for mild weakness (4/5) of distal muscle of right upper limb. Palmomental reflex was elicited, jaw jerk was absent and deep tendon reflexes were normal with flexor plantar response. No other neurologic deficits were observed. Score on Norris Amyotrophic Lateral Sclerosis (ALS) Scale was 93 (maximum score 100) and Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS) was 37 (maximum score 40).
Figure 1: (a) Dimpling of chin (b) attempt to blow cheeks shows prominence of chin dimpling

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Extensive work up including blood biochemistry, serology, vasculitic profile, magnetic resonance imaging of brain and spine were normal. Nerve conduction study showed normal motor as well as sensory conduction. Needle electromyography (EMG) showed acute and chronic denervation in genioglossus, distal and proximal muscles of all four limbs, cervical and thoracic paraspinal muscles and reinnervation in distal muscles of left upper limb, suggestive of preganglionic lesion, anterior horn cell involvement. EMG of mentalis showed fibrillations and fasciculations which were persistent [Figure 2]. Pure tone audiometry showed bilateral mild sensory neural hearing loss. Brain stem auditory evoked response was abnormal and visual evoked response was normal.

During the period of 1 year of follow-up dysarthria and dysphagia gradually worsened and the tongue atrophy had increased. Chin fasciculations with dimpling of chin were present on repeated evaluations during the period of 1 year. New findings were mild atrophy of thenar and interrossei muscles of right hand and brisk finger flexion jerk. Reassessment of disability scales revealed that score on Norris ALS Scale was 87 and ALSFRS 32 indicating mild progression of disability during 1 year.
Figure 2: Electromyography of mentalis shows fasciculations and fibrillations

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 » Discussion Top


The interesting features in our patient were the late age at onset of 48 years and fasciculations confined to the chin, which had persisted over a year without spread to other facial muscles. Further this patient was from East India and only two cases of MMND have been earlier reported from this region. [6],[7] The oldest age at onset reported until date is 39 years. [5] Chin fasciculations are reported for the first time since this feature has not been recorded either in MMND [1],[2],[3],[4],[5] nor in the recently described variant, MMNDV. [13] Fasciculations of chin is a rare clinical finding and seen only in a few disorders. Weakness and fasciculations of facial muscles in the region of lips and chin are characteristically seen in Kennedy's disease. [14] In Machado-Joseph disease facial and chin fasciculations on voluntary effort as in smiling, has been considered as one of the clinical criteria for diagnosis. [15] Our patient did not have the clinical profile of these two disorders. Fasciculations of facial muscles are rare in ALS and there is no specific mention of chin fasciculations and moreover facial muscle weakness is usually a late feature. [16] In addition to the bulbar involvement, the features of early and severe involvement of facial muscles and sensorineural hearing impairment distinguish our patient from bulbar presentation of ALS. In MMND bilateral facial weakness has been reported in 30-50% of patients. [2],[3],[4],[5] The rate of progression of the disease over 18 months was also very much slower than in ALS as there was only a slight decrease of score on Norris scale from 93 to 87 and ALSFRS from 37 to 32. MMND has a protracted course with slow progression and a mean survival of 334.9 ± 27.9 (SE) months. [5]

Our patient had quite prominent bulbar symptoms at the onset of the illness. Bulbar involvement and atrophy of tongue are frequent features ranging from 45% to 92% respectively. [3],[4] Hearing impairment may either occur at onset or later in the course of the illness and is present in 35-90% of patients, [3],[4],[5] sometimes the abnormality may be evident only on audiometry. [4] Lower motor neuron signs are present in all limbs but more frequently in upper limbs (70-80%) compared with lower limbs (17-52%). [3],[4] Our patient had mild degree of weakness only in right upper limb. Persistent asymmetry has been reported in 25-52%. [3],[4] Upper motor neuron signs may appear later in the clinical picture and are seen in 65-87% of patients. [3],[4],[5] In our patient, during the follow-up brisk finger flexion jerk was elicited suggesting appearance of upper motor neurone signs.

Although the precise etiology is not yet clearly defined, inflammatory process has been suggested based on pathological observations of inflammatory cell infiltrates in trigeminal ganglia and vestibular ganglion and recently mitochondrial variations have been described. [17],[18] Further genetic studies need to be undertaken to address the issue of preferential involvement of South Indians. In conclusion, chin fasciculations is a new addition to the clinical profile of MMND.

 
 » References Top

1.Meenakshisundaram E, Jagannathan K, Ramamurthi B. Clinical pattern of motor neuron disease seen in younger age groups in Madras. Neurol India 1970;18:(Suppl 1):109-12.  Back to cited text no. 1
    
2.Jagannathan K. Juvenile motor neurone disease. In: Spillane JD, editor. Tropical Neurology. London: Oxford University Press; 1973. p. 127-30.  Back to cited text no. 2
    
3.Jagannathan K, Kumaresan G. Madras pattern of motor neuron disease. In: Gourie-Devi M, editor. Motor Neuron Disease. New Delhi: Oxford and IBH; 1987. p. 191-3.  Back to cited text no. 3
    
4.Gourie-Devi M, Suresh TG. Madras pattern of motor neuron disease in South India. J Neurol Neurosurg Psychiatry 1988;51:773-7.  Back to cited text no. 4
[PUBMED]    
5.Nalini A, Thennarasu K, Yamini BK, Shivashankar D, Krishna N. Madras motor neuron disease (MMND): Clinical description and survival pattern of 116 patients from Southern India seen over 36 years (1971-2007). J Neurol Sci 2008;269:65-73.  Back to cited text no. 5
    
6.Kundu AK, Biswas S, Banerjee J. "Madras" motor neurone disease from "West Bengal". J Assoc Physicians India 2005;53:321.  Back to cited text no. 6
[PUBMED]    
7.Saha SP, Das SK, Gangopadhyay PK, Roy TN, Maiti B. Pattern of motor neurone disease in eastern India. Acta Neurol Scand 1997;96:14-21.  Back to cited text no. 7
[PUBMED]    
8.Wadia PN, Bhatt MH, Misra VP. Clinical neurophysiological examination of deafness associated with juvenile motor neurone disease. J Neurol Sci 1987;78:29-33.  Back to cited text no. 8
[PUBMED]    
9.Im SH, Kim NH. First case of Madras motor neuron disease from Korea. Muscle Nerve 2008;38:941-2.  Back to cited text no. 9
[PUBMED]    
10.Isak B, Uluc K, Tanridag T, Ozsahin S, Dengler R, Us O, et al. Madras motor neuron disease in Turkey. Amyotroph Lateral Scler 2009;10:347-9.  Back to cited text no. 10
[PUBMED]    
11.Khan S, Rashid S. Madras motor neuron disease: Crossing borders. Amyotroph Lateral Scler Frontotemporal Degener 2013;14:230-1.  Back to cited text no. 11
[PUBMED]    
12.Fan D, Fu Y, Sun A, Kang D. Madras pattern of motor neuron disease: Improvement of symptoms with intravenous immunoglobulin. Natl Med J India 2004;17:141-2.  Back to cited text no. 12
[PUBMED]    
13.Gourie-Devi M, Nalini A. Madras motor neuron disease variant, clinical features of seven patients. J Neurol Sci 2003;209:13-7.  Back to cited text no. 13
[PUBMED]    
14.Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology 1968;18:671-80.  Back to cited text no. 14
[PUBMED]    
15.Lima L, Coutinho P. Clinical criteria for diagnosis of Machado-Joseph disease: Report of a non-Azorena Portuguese family. Neurology 1980;30:319-22.  Back to cited text no. 15
[PUBMED]    
16.Leigh PN. Amyotrophic lateral sclerosis. In: Eisen AA, Shaw PJ, editors. Motor Neuron Disorders and Related Diseases. Handbook of Clinical Neurology. Vol. 82. 3 rd Series. Amsterdam: Elsevier BV; 2007. p. 249-78.  Back to cited text no. 16
    
17.Shankar SK, Gourie-Devi M, Shankar L, Yasha TC, Santosh V, Das S. Pathology of Madras type of motor neuron disease (MMND)-A histological and immunohistochemical study. Acta Neuropathol 2000;99:428-34.  Back to cited text no. 17
[PUBMED]    
18.Govindaraj P, Nalini A, Krishna N, Sharath A, Khan NA, Tamang R, et al. Mitochondrial DNA variations in Madras motor neuron disease. Mitochondrion 2013;13:721-8.  Back to cited text no. 18
[PUBMED]    


    Figures

  [Figure 1], [Figure 2]

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