Spinal muscular atrophy type III complicated by spinal superficial siderosis: a case report with molecular and neuropathological findings

CE Pringle, R Nelson, W Miller, R Kothary… - Acta Neuropathologica …, 2020 - Springer
Spinal muscular atrophy (SMA) is largely linked to deletion or mutation of the Survival motor
neuron 1 (SMN1) gene located on chromosome 5q13. Type III (Kugelberg–Welander …

Spinal Muscular Atrophy Type 3, Kugelberg-Welander Disease

C Angelini, C Angelini - Genetic Neuromuscular Disorders: A Case-Based …, 2014 - Springer
Spinal muscular atrophy type 3 (SMA3), or Kugelberg-Welander disease, is a relatively mild
form of spinal muscular atrophy characterized by proximal muscle weakness and hypotonia …

An autopsy case of spinal muscular atrophy type III (Kugelberg‐Welander disease)

S Kuru, M Sakai, M Konagaya, M Yoshida… - …, 2009 - Wiley Online Library
We report an autopsy case of a 67‐year‐old man clinicogenetically diagnosed as having
spinal muscular atrophy (SMA) type III (Kugelberg‐Welander disease), showing slowly …

Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease)

E Salort-Campana, S Quijano-Roy - Archives de Pédiatrie, 2020 - Elsevier
Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically
presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once …

Atypical presentations of spinal muscular atrophy type III (Kugelberg–Welander disease)

PB Kang, KS Krishnamoorthy, RM Jones… - Neuromuscular …, 2006 - Elsevier
Spinal muscular atrophy type III (SMA III, Kugelberg–Welander disease) typically presents
with symmetric proximal weakness, areflexia, and hypotonia. We present four children with …

Spinal muscular atrophy type 2 patient who survived 61 years: an autopsy case report

M Yamadera, T Saito, M Shinohara, H Nishio… - …, 2022 - Wiley Online Library
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease
characterized by progressive muscle weakness due to degeneration of lower motor neurons …

Spinal muscular atrophy: present state

H Schmalbruch, G Haase - Brain pathology, 2001 - Wiley Online Library
Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease caused by
homozygous deletions or mutations in the SMN1 gene on Chr. 5q13. SMA spans from …

Neonatal muscular spinal atrophy: a case report

P Pavone, M Velardita, T Trigilia, G Luca… - La Pediatria Medica e …, 2004 - europepmc.org
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease characterized by diffuse
proximal and distal weakness due to deletions of the survival motor neuron (SMN) gene …

[HTML][HTML] Autopsy of a child with Spinal muscular atrophy Type I (Werdnig-Hoffmann disease)

MG Madakshira, S Singla, K Gupta, S Zahan… - Autopsy and Case …, 2020 - SciELO Brasil
Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder which encompasses a
large group of genetic disorders characterized by slowly progressive degeneration of lower …

Sixty years of spinal muscular atrophy: a personal odyssey

V Dubowitz - Sumner CJ, Paushkin S, Ko C. Spinal muscular …, 2016 - books.google.com
We live in exciting times, and it has been a tremendous privilege to witness the remarkable
growth in interest in the neuromuscular disorders over the past half-century and the quantum …