Rare Disease

28 Feb 2021 Rare Disease

Rare #Many #Strong #Proud

There is no precise definition of RARE DISEASE. WHO defines a disease to be rare if it affects 1 or less per 1000 population. However, European definition for rare disease is, when it affects less than 1 in 2000 people. Considering the population of India the suggested threshold for India for a disease to be defined as rare is 1 in 10,000.

There are over 300 million people living with one or more of over 7000 identified rare diseases around the world. Each rare disease may only affect a handful of people, scattered around the world, but they add up to a formidable number. Rare diseases currently affect 3.5% – 5.9% of the population worldwide. 72% of rare diseases are genetic whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative and roughly 70% of those genetic rare diseases start in early childhood.

According to an estimate, about a third of rare diseases are due to some Neutological disorders, eg. Antibody mediated encephalitis, ALS, Ataxia telangiectasia, Ataxia with occulomotor apraxia, Autosomal dominant Leucodystrophies, BMD, Benign essential blepharospasm, Brown Sequard syndrome, CADASIL, Chanelopathies, CMTs, Congenital Myasthenic syndrome, Dermatomyositis, Distal Myopathies, Dopa resrponsive dystonia, Episodic ataxias, Friedreich ataxia, Familial hemiplegic migraine, Fronto-temporal dementia, GBS, Hereditary spastic paraparesis, Huntington’s Disease, Inborn errors of metabolism, Joubert syndrome, Lambert eaton syndrome, Leucodystrophies, LGMDs, Mitochondrial disorders, Myasthenia Graves, Marinesco sjogren Syndrome, Meige Syndrome, Meralgia Paresthetica, Miller-Fischer Syndrome, MSA, Myotonia congenita, Myotonic dystrophy, Narcolepsy, NBIA, Neuroblastoma, Neurofibromatosis, NMOSD, Paroxysmal dyskinesias, Post polio syndrome, SCAs, Spastic paraplegia, Status epilepticus, Wilson Disease etc. to name a few. Hence the role of Neurologists cannot be over emphasised in the precise diagnosis and appropriate management of these conditions.

Rare diseases are characterised by a broad range of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease. Varied clinical presentation and lack of scientific knowledge often lead to misdiagnosis. Lack of treatment/cure further adds to the woes.

Rare Disease Day takes place on the last day of February each year, a month with rare number of days. Rare Disease Day raises awareness for the 300 million people living with rare diseases around the world and their families and carers. The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

The long-term cause of the Rare Disease Day campaign is to achieve equitable access to diagnosis, treatment, health and social care and social opportunity for people affected by a rare disease.

“Let’s be a part of this global noble cause…..”

Dementia or Neurocognitive disorders

10 Jan 2021 Dementia or Neurocognitive Disorders

The term Dementia is derived from Latin stock, meaning without mind. According to DSM fourth edition, text revision, dementia refers to multiple cognitive deficits that involves memory impairment, and one or more of the following, viz. language disturbance (aphasia), impairment in carrying out skilled motor activities despite intact motor functions (apraxia), deficits in recognizing familiar persons or object despite intact sensory function (agnosia), impairment in planning, initiating, organizing, and abstract reasoning (executive dysfunction). DSM-5 replaced the term dementia with neurocognitive disorder, major or minor. It also obviated the need of memory impairment to qualify the definition of the disorder.

Alzheimer’s disease (AD) is the most common form of dementia and accounts for nearly 60-70% of all cases. As per a current estimate AD affects over 35 million people worldwide. 

Age is perhaps the most important risk factor, as prevalence rate doubles every five years after age 65. Other important risk factors are postmenopausal women, lower intelligence, fewer year of education, traumatic brain injury, and many medical and psychiatric conditions eg. Diabetes, hypertension, stroke, MI, dyslipidemia, obesity, chronic stress, depression etc. There are some genetic risk factors also like Presenilin 1&2, APP, APOE  genes etc.

The evolving  history of slowly progressive cognitive decline involving memory and other domains is the most important diagnostic clue which is aided by neuropsychological battery (MMSE, MOCA, FAB, Lobar function),  neuroimaging ( MRI, amyloid PET, FDG-PET) and biomarker (Abeta /tau in CSF)  to arrive at a proper diagnosis.

AD risk may be decreased by regular exercise, mental stimulation, socialization and better dietary habits with regular intake of low calorie, low fat diet rich in omega 3 fatty acids/DHA, vitamins (folate, B12, B3, C,E) and antioxidants; and regular servings of fruits and vegetables.

Donepezil, Rivastigmine, Galantamine, Mementine and Caprylidine triglyceride are FDA approved medications for the treatment of AD. Cognitive rehabilitation, involving problem solving and attention skills, has also been suggested to slow the progression of the disease and facilitate gain in skills.

So timely recognition of symptoms by the caregiver and physicians lie to the core of a ready diagnosis and institution of treatment and rehabilitation which help patients gain the lost  skills and lead a better and graceful life with fair degree of independence.

Epilepsy

18 Jun 2016 Epilepsy, Stroke

Epilepsy is a chronic disorder that causes unprovoked, recurrent seizures. A seizure is a sudden rush of electrical activity in the brain. There are two main types of seizures. Generalized seizures affect the whole brain. Focal, or partial seizures, affect just one part of the brain. A mild seizure may be difficult to recognize. It can last a few seconds during which you lack awareness. Stronger seizures can cause spasms and uncontrollable muscle twitches, and can last a few seconds to several minutes. During a stronger seizure, some people become confused or lose consciousness. Afterward you may have no memory of it happening.

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Migraine & Headache

18 Jun 2016 Health Care, Migraine & Headache

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Botox Treatment

18 Jun 2016 Botox

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Surgical Guide

18 Jun 2016 Health Care, Science

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Psychological treatments for depression

16 Jun 2016 Botox, parkinson's, Stroke

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The Future of Medical Science

16 Jun 2016 Health Care, Medical, Science

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Epilepsy

16 Jun 2016 Epilepsy

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Publications

16 Jun 2016 Medical

NATIONAL AND INTERNATIONAL INDEXED JOURNALS
1. Nagapal K, Sharma B, Prakash S, Panagariva A. GFPT1 gene related congenital myasthenic syndrome: A
treatable disorder mimicking limb girdle muscular dystrophy. Neurol Neurol Sci Open Access. 2020; 3(1): 1012.
2. Nagpal K, Prakash S. Artificial Intelligence and Medical Ethics: Unresolved Issues. Austin J Surg – Volume 7 Issue
1 – 2020
3. Kadam Nagpal, Swayam Prakash. An unusual presentation of superficial siderosis with focal dystonia and “Giant
Panda Morphology” on MRI: atypical clinicoradiological amalgam. Neurological Sciences. 2018.
4. Jain RS, Prakash S, Nagpal K and Handa R. Paroxysmal Kinesigenic Dyskinesia: A Rare NeurologicalDisorder
Posing Diagnostic Challenge but Therapeutic Rewards. Austin J Clin Neurol 2015; 2(9): 1077.
5. R Handa, RS Jain, K Nagpal, S Prakash, I Bhana, MS Sisodiya, PK Gupta: EHMTI-0261. Idiopathic intracranial
hypertension presenting as acute onset bilateral visual loss. The Journal of Headache and Pain 09/2014; 15(Suppl
1):C21-C21. DOI:10.1186/1129-2377-15-S1-C21
6. Jain S. Rajendra, Handa Rahul, Nagpal Kadam, Prakash Swayam. Tumefactive demyelination: A rare
presentation of HIV. Annals of Tropical Medicine and Public Health — Jul-Aug 2014 — Vol 7 — Issue 4
7. Rajendra Singh Jain, Kadam Nagpal, Swayam Prakash, Rahul Handa. Ocular cysticercosis causing isolated
ptosis: A rare presentation. Annals of Tropical Medicine and Public Health, Mar-Apr 2014. Vol 7. Issue 2
8. Jain S. Rajendra, Prakash Swayam, Nagpal Kadam, Handa Rahul. Calvarial Tuberculosis: A rare localization of a
common disease. Annals of Tropical Medicine and Public Health, Mar-Apr 2014. Vol 7. Issue 2
9. Rajendra Singh Jain, Pankaj Kumar Gupta, Rahul Handa, Shankar Tejwani, Swayam Prakash, Sunil Kumar,
Rakesh Agrawal, Mahendra S. Sisodiya. Paralytic rabies or post vaccination myelitis: a diagnostic dilemma. DOI:
http://dx.doi.org/10.1016/j.ajem.2014.09.026
10. Rajendra Singh Jain, Raghavendra Bakki Sannegowda, Rahul Jain, Swayam Prakash. Reverse hot cross bun,
Mercedes-Benz, face of the giant panda and her cub signs with pontine infarcts: a radiological pandora. BMJ Case
Reports 2014; doi:10.1136/bcr-2013-203447
11. Jain RS, Prakash S, Handa R and Nagpal K. SUNCT: The Rarest Primary Headache in Indian Perspective. Austin
J Clin Case Rep. 2014;1(2): 3.
12. Rajendra Singh Jain, Kadam Nagpal, Rahul Jain, Swayam Prakash, Rahul Handa. Acute psychosis presenting as
a sole manifestation of left atrial myxoma: A new paradigm
13. Rajendra Singh Jain, Kadam Nagpal, Sunil Kumar, Swayam Prakash, Rahul Handa. Purple glove
syndromeoccurring after oral administration of phenytoin in therapeutic doses: mechanism still a dilemma
14. Rajendra Singh Jain, Rahul Handa, Arvind Vyas, Swayam Prakash, Kadam Nagpal, Indu Bhana, Mahendra S.
Sisodiya, Pankaj Kumar Gupta. Cysticercosis encephalitis: A life threatening form of
neurocysticercosis.j.ajem.2014.04.048
15. Bhawna Sharma, Rahul Handa, Swayam Prakash, Kadam Nagpal, Indu Bhana, Pankaj Kumar Gupta, Sunil
Kumar, Mahendra Singh Sisodiya. Posterior Cerebral artery stroke presenting as Alexia without Agraphia.
j.ajem.2014.04.046

16. Jain, Rajendra Singh, Rahul Handa, Kadam Nagpal, and Swayam Prakash. ”Re:” Sudden headache, third nerve
palsy and visual deficit: thinking outside the subarachnoid haemorrhage box” N Chrinn and Lambert, 42 (6): 810-
812 doi: 10.1093/ageing/aft088.” Age and Ageing 43, no. 1 (2014).
17.Jain, Rajendra S., Pankaj K. Gupta, Rahul Handa, Kadam Nagpal, Swayam Prakash, and Rakesh Agrawal.
”Vertebrobasilar Territory Ischemic Stroke After Electrical Injury: Delayed Sequelae.” Journal of Stroke and
Cerebrovascular Diseases (2014).
18. Bhawna, Sharma, Handa Rahul, Nagpal Kadam, Prakash Swayam, Pankaj Kumar Gupta, Rakesh Agrawal, and
Mahendra S. Sisodiya. ”Transient splenial diffusion-weighted image restriction mimicking stroke.” The American
journal of emergency medicine (2014).
19. Sharma, B., K. Nagpal, S. Prakash, and P. Gupta. ”Anti-GAD negative stiff person syndrome with a favorable
response to intravenous methylprednisolone: An experience over evidence.” Neurology India 62, no. 1 (2014): 76.
20. Sharma, Bhawna, Swayam Prakash, Raghavendra Bakki Sannegowda, and Ashok Panagariya. ”Scalp fibroma: a
rare cutaneous manifestation of tuberous sclerosis.” BMJ case reports 2014 (2014): bcr2013200612.
21. Jain, Rajendra Singh, Rahul Handa, Kadam Nagpal, Swayam Prakash, Pankaj Kumar Gupta, and Rakesh
Agrawal. ”Recurrent Spontaneous Spinal Epidural Haematoma leading to Compressive Myelopathy.” The
American Journal of Emergency Medicine (2014).
22. Bhawna Sharma, Rahul Handa, Swayam Prakash, Kadam Nagpal, Pankaj Gupta. Phenytoin Toxicity Presenting
as Encephalopathy With Fatal Outcome: A Case Report. J Neurol Res. 2013;3(6):184-186
23. Rajendra S Jain, Rahul Handa, Trilochan Srivastava, Swayam Prakash, Kadam Nagpal, Indu Bhana, Pankaj K
Gupta. Intramedullary Craniovertebral junction Tuberculoma: An uncommon location of a common disease.
Journal of Infection and Public Health (2014)
24. Jain, Rajendra Singh, Rahul Handa, Kadam Nagpal, and Swayam Prakash. ”Clinicoradiological improvement of
intracranial tubercular abscess with medical management alone.” BMJ case reports 2014 (2014): bcr2013203497.
25. Jain, Rajendra Singh, Rahul Handa, Swayam Prakash, Kadam Nagpal, and Pankaj Gupta. ”Acute hypokalemic
quadriparesis: an atypical neurological manifestation of dengue virus.” Journal of neurovirology (2014): 1-2.
26. Bhawna Sharma, Rahul Handa, Kadam Nagpal, Swayam Prakash, Pankaj Kumar Gupta, Rakesh Agrawal.
Cycloserine induced Psychosis in a young female with Drug Resistant Tuberculosis. j.genhosppsych.2014.03.009
27. Jain, Rajendra Singh, Rahul Handa, Arvind Vyas, Swayam Prakash, and Kadam Nagpal. ”Clinically isolated
syndrome presenting as paroxysmal dysarthria: a rare but typical presentation.” Neurological Sciences (2014): 1-2.
28. Rajendra Singh Jain, Swayam Prakash, Tarun Mathu, Rahul Handa, Kadam Nagpal. Calvarial Tuberculosis With
Intracranial Tuberculomas: A Rare Association. J Neurol Res 2013;3(3-4):130-132
29. Sharma, Bhawna, Rahul Handa, Swayam Prakash, Kadam Nagpal, and Pankaj Gupta. ”Anti-NMDA receptor
encephalitis: A neurological disease in psychiatric disguise.” Asian Journal of Psychiatry (2013).
30. Jain, Rajendra S., Swayam Prakash, B. S. Raghavendra, Kadam Nagpal, and Rahul Handa. ”Cyclic mood
disorder heralding adult-onset autosomal dominant leukodystrophy: A clinical masquerader.” Asian Journal of
Psychiatry (2013).
31. Sharma, Bhawna, Raghavendra Bakki Sannegowda, Rahul Jain, Parul Dubey, and Swayam Prakash. ”A rare
case of alcoholic pellagra encephalopathy with startle myoclonus and marked response to niacin therapy: time for
a new dictum?.” BMJ case reports (2013).
32. Sharma B, Nagpal K, Bakki Sannegowda R, Prakash S. Hepatitis E with Guillain-Barre syndrome: still a rare
association. J Neurovirol.2013 Apr;19(2):186-7. doi: 10.1007/s13365-013-0156-z. Epub 2013 Mar 8.
33. Jain, Rajendra S., Swayam Prakash, B. S. Raghavendra, Kadam Nagpal, and Rahul Handa. ”Cyclic mood
disorder heralding adult-onset autosomal dominant leukodystrophy: A clinical masquerader.” Asian Journal of
Psychiatry (2013).
34. Sharma B1, Nagpal K, Bakki Sannegowda R, Prakash S. Hepatitis E with Guillain-Barre syndrome: still a rare
association. J Neurovirol.2013 Apr;19(2):186-7. doi: 10.1007/s13365-013-0156-z. Epub 2013 Mar 8.

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