Faculty Opinions recommendation of Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.

Author(s):  
Hans van Bokhoven
The Lancet ◽  
1995 ◽  
Vol 345 (8955) ◽  
pp. 985-986 ◽  
Author(s):  
G. van der Steege ◽  
P.M. Grootscholten ◽  
P. van der Vlies ◽  
T.G. Draaijers ◽  
J. Osinga ◽  
...  

2021 ◽  
Vol 9 (11) ◽  
pp. 2897-2902
Author(s):  
Raheena B ◽  
Shaila Borannavar ◽  
Ananta S Desai

Spinal Muscular Atrophy (SMA) is the second leading genetic disorder inherited in the autosomal recessive pattern due to the absence of the SMN1 gene characterized by loss of motor neurons and progressive muscle wasting, often leading to dependent life and decreased life span. In Ayurveda, this condition can be considered as Kulaja Vyadhi wherein the patient’s Mamsa and Snayu is affected by Vata. This can be regarded as Mamsa-Snayugata Sarvanga Vata. It is said that Prakruta Vata dosha is the life, it is the strength, it is the sustainer of the body, it holds the body and life together. If it is Vikruta it produces Sankocha, Khanja, Kubjatva, Pangutva, Khalli and Soshana of Anga. So, in this disease aggravated Vata does the vitiation of Mamsa and Snayu thus leading to Soshana of both, resulting in Stambha, Nischalikarana of Avayava. A 21years female patient was admitted to our I.P.D with c/o of reduced strength in all four limbs leading to the inability to walk and to maintain erect posture during standing and sitting positions. Based on Ayurvedic principles the patient was initially subjected to Avaranahara Chikitsa followed by Brimhana line of management. Keywords: Mamsagata vata, Snayugata vata, Sarvanga vata, Spinal muscular atrophy (SMA)


Science ◽  
2008 ◽  
Vol 320 (5875) ◽  
pp. 524-527 ◽  
Author(s):  
G. E. Oprea ◽  
S. Krober ◽  
M. L. McWhorter ◽  
W. Rossoll ◽  
S. Muller ◽  
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1996 ◽  
Vol 33 (6) ◽  
pp. 469-474 ◽  
Author(s):  
G Matthijs ◽  
E Schollen ◽  
E Legius ◽  
K Devriendt ◽  
N Goemans ◽  
...  

2002 ◽  
Vol 51 (5) ◽  
pp. 585-592 ◽  
Author(s):  
Louis Viollet ◽  
Annie Barois ◽  
Jean G. Rebeiz ◽  
Ziad Rifai ◽  
Philippe Burlet ◽  
...  

2003 ◽  
Vol 18 (4) ◽  
pp. 269-271 ◽  
Author(s):  
Rosalucia Mazzei ◽  
Francesca Luisa Conforti ◽  
Maria Muglia ◽  
Teresa Sprovieri ◽  
Alessandra Patitucci ◽  
...  

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