Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association

Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association

The association of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy, also known as “SMA plus,” is a unique syndrome linked to non-survival motor neuron (non-SMN) genes. The disease starts in childhood with progressive weakness and atrophy of muscles; myoclonic epilepsy develops duri...

Full description

Bibliographic Details
Main Authors: Divya M. Radhakrishnan, Ritu Shree, Govind Madhaw, Rajat Manchanda, Anita Mahadevan, Niraj Kumar
Format: Article
Language:English
Published: Thieme Medical and Scientific Publishers Pvt. Ltd. 2021-01-01
Series:Journal of Neurosciences in Rural Practice
Subjects:
sma
pme
sma-pme
sma plus
spinal muscular atrophy
progressive myoclonic epilepsy
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1721543
id doaj-e445664f668b44819f4d744a92c913e1
record_format Article
spelling doaj-e445664f668b44819f4d744a92c913e12021-01-29T23:40:45ZengThieme Medical and Scientific Publishers Pvt. Ltd.Journal of Neurosciences in Rural Practice0976-31470976-31552021-01-01120121021210.1055/s-0040-1721543Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare AssociationDivya M. Radhakrishnan0Ritu Shree1Govind Madhaw2Rajat Manchanda3Anita Mahadevan4Niraj Kumar5Department of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, IndiaDepartment of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, IndiaDepartment of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, IndiaDepartment of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, IndiaDepartment of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, IndiaDepartment of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, IndiaThe association of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy, also known as “SMA plus,” is a unique syndrome linked to non-survival motor neuron (non-SMN) genes. The disease starts in childhood with progressive weakness and atrophy of muscles; myoclonic epilepsy develops during later childhood, after the onset of motor symptoms. In this report, we describe a case of SMN gene unrelated SMA and myoclonic epilepsy, supported by electrophysiological and neuropathological evidences.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1721543smapmesma-pmesma plusspinal muscular atrophyprogressive myoclonic epilepsy
collection DOAJ
language English
format Article
sources DOAJ
author Divya M. Radhakrishnan
Ritu Shree
Govind Madhaw
Rajat Manchanda
Anita Mahadevan
Niraj Kumar
spellingShingle Divya M. Radhakrishnan
Ritu Shree
Govind Madhaw
Rajat Manchanda
Anita Mahadevan
Niraj Kumar
Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association
Journal of Neurosciences in Rural Practice
sma
pme
sma-pme
sma plus
spinal muscular atrophy
progressive myoclonic epilepsy
author_facet Divya M. Radhakrishnan
Ritu Shree
Govind Madhaw
Rajat Manchanda
Anita Mahadevan
Niraj Kumar
author_sort Divya M. Radhakrishnan
title Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association
title_short Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association
title_full Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association
title_fullStr Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association
title_full_unstemmed Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association
title_sort spinal muscular atrophy and progressive myoclonic epilepsy: a rare association
publisher Thieme Medical and Scientific Publishers Pvt. Ltd.
series Journal of Neurosciences in Rural Practice
issn 0976-3147
0976-3155
publishDate 2021-01-01
description The association of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy, also known as “SMA plus,” is a unique syndrome linked to non-survival motor neuron (non-SMN) genes. The disease starts in childhood with progressive weakness and atrophy of muscles; myoclonic epilepsy develops during later childhood, after the onset of motor symptoms. In this report, we describe a case of SMN gene unrelated SMA and myoclonic epilepsy, supported by electrophysiological and neuropathological evidences.
topic sma
pme
sma-pme
sma plus
spinal muscular atrophy
progressive myoclonic epilepsy
url http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1721543
work_keys_str_mv AT divyamradhakrishnan spinalmuscularatrophyandprogressivemyoclonicepilepsyarareassociation
AT ritushree spinalmuscularatrophyandprogressivemyoclonicepilepsyarareassociation
AT govindmadhaw spinalmuscularatrophyandprogressivemyoclonicepilepsyarareassociation
AT rajatmanchanda spinalmuscularatrophyandprogressivemyoclonicepilepsyarareassociation
AT anitamahadevan spinalmuscularatrophyandprogressivemyoclonicepilepsyarareassociation
AT nirajkumar spinalmuscularatrophyandprogressivemyoclonicepilepsyarareassociation
_version_ 1724318624827572224

Similar Items