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Year : 2017  |  Volume : 65  |  Issue : 1  |  Page : 11--13

An early description of monomelic amyotrophy: An excerpt from the diaries of Dr. Charles I Smith (1830–1880) in Bangalore, Southern India

Sanjeev Jain 
 Department of Psychiatry, National Institute of Mental Health and Neurosciences, Hosur Road, Bengaluru, Karnataka, India

Correspondence Address:
Prof. Sanjeev Jain
Molecular Genetics Laboratory, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Hosur Road, Bangalore - 560 029, Karnataka


An early description of paralysis confined to an upper limb can be found in the casebook of Dr. Charles I Smith, who was a doctor in Bangalore in the 19th century. The historical and clinical aspects, as well as the current importance of this entity are described briefly.

How to cite this article:
Jain S. An early description of monomelic amyotrophy: An excerpt from the diaries of Dr. Charles I Smith (1830–1880) in Bangalore, Southern India.Neurol India 2017;65:11-13

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Jain S. An early description of monomelic amyotrophy: An excerpt from the diaries of Dr. Charles I Smith (1830–1880) in Bangalore, Southern India. Neurol India [serial online] 2017 [cited 2019 Feb 21 ];65:11-13
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Several neurodegenerative syndromes, such as general paralysis of the insane (GPI), cysticercosis, and aphasias were described in the 19th century. This provided a better understanding of various psychiatric and neurological disease prevalent at that time. In England, the interactions between “scientifically oriented general physicians” and other doctors led to the “flowering” of neurological disciplines in the 19th century. This also had an impact on India, as doctors employed by the East India Company for service in India during this period, contributed to a wide variety of disciplines from botany (Francis Buchanan), the native pharmacopeia (TA Wise, O'Shaughnessy), and early descriptions of psychiatric and neurological diseases such as those associated with cysticercosis (Smith).

The diary (and casebook) of Charles Irving Smith (and his son)[1] begins in 1833, and describes the patients seen at the Hospital for Soldiers, Peons, and Paupers, in the cantonment area, which was probably an early predecessor of large public hospitals in Bangalore (now Bengaluru), such as the Bowring and Lady Curzon Hospitals, and also the Lunatic Asylum, the successor of which is now the National Institute of Mental Health and NeuroSciences (NIMHANS). Dr. Smith was born in the erstwhile garrison town of Seringapatnam, Mysore, as his father was a soldier in the East India Company army (which was stationed there after the defeat of Tipu Sultan in 1799). He was sent to the UK to study, and came back to India as a medical officer for the Company.

The casebook and diary provide an early account of the formal “Western medicine” in India. Confronted by a significant number of patients with mental illness, apparently arising from infective and traumatic causes, Dr. Smith was able to identify some causes and provide one of the earliest descriptions of cysticercosis or syphilitic gummas.[2] Trained in the early 19th century medicine, at a time when psychiatry and neurology were not separate disciplines, he viewed most cases with a decidedly “organic” viewpoint. The diary records in considerable detail, the clinical presentation and postmortem findings in various cases with neuropsychiatric manifestations. The recognition of these pathologies is indicative of the scientific curiosity of early British medical practitioners in India.

It is, thus, no surprise that he also noted a peculiar form of paralysis [Figure 1], which he described briefly, and suggested that the disease was caused by inflammation of the spinal cord rather than the brain (which he often saw in other cases). He described it as a peculiar form of paralysis, confined to one limb, usually the upper one, and attributed it to a spinal inflammation.{Figure 1}

This description seems to describe monomelic amyotrophy with single limb involvement.[3],[4],[5] The group of spinal muscular atrophies (SMAs) was first described by Werdnig and Hoffman, some decades later in the 1890's, and Smith's earlier description in the mid-19th century is not widely known, as it remained confined to his casebook. The monomelic form (Hirayama disease; OMIM 602440) was described in 1959, almost a century after Smith's observation. Although the description starts as a generalized numbness of the extremity, finally, it is confined to one extremity. The characteristic clinical features of this interesting disorder are young age at onset, sporadic occurrence (with occasional familial occurrence), male preponderance, wasting and weakness confined to a single upper or lower limb without involvement of cranial nerves, pyramidal tracts, sensory, cerebellar, extrapyramidal systems, or cortical functions.[3]

Genetic studies have mapped genes associated with SMA (survival motor neuron [SMN] 1 and SMN2 genes),[6],[7] which are associated with the phenotypic expression of SMA. However, many other studies have ruled out deletions in SMN1 and SMN2.[8],[9] Mishra et al., in 2005, observed a preponderance of male patients with the condition and suggested a role of the X chromosome. The simultaneous occurrence of two rare alleles in KIAA1377 and C5orf42 genes has been suggested in a sample of patients from Korea, some of whom also shared evidence of a common founder effect.[10]

More than 250 cases [3],[5] with this syndrome, including those associated with a familial occurrence, have been identified at the NIMHANS; cases have also been reported from several other locations (Sri Lanka, Malaysia, Hong Kong, Korea, Japan, Taiwan, Denmark, Holland, and USA). Given their polymorphic presentation and relatively late age at onset, many neurodegenerative disorders show evidence of worldwide spread (and founder effects) and haplotype diversity at the locus (e.g., Huntington's disease, ataxia syndromes), which may influence the disease presentation. However, this peculiar pattern of monomelic amyotrophy is confined mostly to Asians, and particularly to Indians and Japanese,[3],[4] and genetic analysis appears to suggest a complex pattern of risk.

Many “common” neurological (epilepsy, Parkinson' disease) and psychiatric syndromes (autism, schizophrenia, bipolar disorder, as well as ataxia syndromes, Huntington's disease etc.,) are related to the occurrence of rare genetic variants, which often remain confined to a given geographical area. Better understanding of these variants, from both the clinical and historical context, as well as genetic aspect, is thus necessary. The presence of an early case, of what is now identified as monomelic amytrophy 170 years ago, suggests that the disease was observed even then in southern India. Recognizing these early founders in a population and an analysis of rare variants is necessary to estimate and evaluate genetic parameters, and may also offer insights into disease biology.

Financial support and sponsorship

The work is supported in part by a Wellcome grant 'Turning the Pages' (096493/Z/11/Z). Dr Nithin Krishna; and Prof A Nalini, Dept. of Neurology, NIMHANS are acknowledged for their support and suggestions.

Conflicts of interest

There are no conflicts of interest.


1Charles Irving Smith, Commonplace book, containing medical notes. Original manuscript. MS 7367, Wellcome Library, London.
2Jain S, Murthy P, Shanker SK. Neuropsychiatric prespective from 19th century India: Neurocysticercosis and the diaries of Dr. Charles I Smith. Hist Psychiatry 2001;12:459-66.
3Gourie-Devi M, Nalini A. Long-term follow-up of 44 patients with brachial monomelic amyotrophy. Acta Neurol Scand 2003;107:215-20.
4Hirayama K, Toyokura Y, Tsubaki T. Juvenile muscular atrophy of unilateral upper extremity; a new clinical entity. Psychiat Neurol Jap 1959;61:2190-7.
5Nalini A, Lokesh L, Ratnavalli E. Familial monomelic amyotrophy: A case report from India. J Neurol Sci 2004;220:95-8.
6Gilliam TC, Brzustowicz LM, Castilla LH, Lehner T, Penchaszadeh GK, Daniels RJ, et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 1990;345:823-5.
7Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy–determining gene. Cell 1995;80:155-65.
8Di Guglielmo G, Brahe C, Di Muzio A, Uncini A. Benign monomelic amyotrophies of upper and lower limb are not associated to deletions of survival motor neuron gene. J Neurol Sci 1996:141:111-3.
9Misra UK, Kalita J, Mishra VN, Kesari A, Mittal B. A clinical, magnetic resonance imaging, and survival motor neuron gene deletion study of Hirayama disease. Arch Neurol 2005;62:120-3.
10Lim YM, Koh I, Park YM, Kim JJ, Kim DS, Kim HJ. Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy. Neuromusc Disord 2012;22:394-400.