Ramblings in the history of spinal muscular atrophy

  title={Ramblings in the history of spinal muscular atrophy},
  author={Victor Dubowitz},
  journal={Neuromuscular Disorders},
  • V. Dubowitz
  • Published 31 January 2009
  • Medicine
  • Neuromuscular Disorders

Spinal muscular atrophy: a timely review.

A historical perspective is taken to highlight important milestones on the road to developing effective therapies for SMA to prioritize and develop the most promising therapies in an efficient, timely, and safe manner with the guidance of the appropriate regulatory agencies.

Restoring SMN Expression: An Overview of the Therapeutic Developments for the Treatment of Spinal Muscular Atrophy

The SMA etiology, the role of SMN, and the challenges of the therapies that are approved for SMA treatment are discussed, including an antisense oligonucleotide nusinersen and small-molecule risdiplam, target SMN2 to produce more functional SMN.

Spinal muscular atrophy: A changing phenotype beyond the clinical trials

Communicating the Spinal Muscular Atrophy diagnosis to children and the principle of autonomy

It was identified that the failure in communication is the main factor for negative repercussions on the autonomy of children and their guardians, with self-reported psychological trauma, besides the high risk for post-traumatic stress syndrome.

General issues of spinal muscular atrophy (scientific review). Etiology, clinical features, approaches in rehabilitation and orthopedic treatment

A more detailed study of etiological factors, pathogenesis and clinical features of spinal muscular atrophy will allow a more extensive look at the problems of this disease in order to better understand the possible methods of diagnosis and treatment of patients with this pathology.

Diminished motor neuron activity driven by abnormal astrocytic GLAST glutamate transporter activity in spinal muscular atrophy is not fully restored after lentiviral SMN delivery

This work defines a novel SMN-associated disease mechanism involving abnormal glutamate transporter activity and regulation in astrocytes that can directly diminish motor neuron function in SMA.

A Chemical Biology Perspective to Therapeutic Regulation of RNA Splicing in Spinal Muscular Atrophy (SMA).

The exciting journey from the first reported SMA cases to the currently approved splicing-switching treatments, i.e., antisense oligonucleotides and small-molecule modifiers, is summarized.

Neuromuscular denervation and deafferentation but not motor neuron death are disease features in the Smn2B/- mouse model of SMA

Results indicate that NMJ denervation and deafferentation, but not motor neuron death, are conserved features of SMA pathology in Smn2B/- mice.



Spinal muscular atrophy type II

A form of spinal muscular atrophy (S. M. A.) intermediate in severity between the infantile (Werd‐nig‐Hoffmann or type I) and juvenile (Kugelberg‐Welander or type III) forms of this disease has been

Atlas of Clinical Medicine

The author is wisely cautious in the matter, as will be seen by the following summary of his conclusions as to the probable pathology of exophthalmic goitre.

International SMA Collaboration

Lectures on Diseases of Children

found an increasein the total serum protein contentof 9'0 to 9'69 grammes per centum in three out of four cases, again owing mainly to an increasein the globulin fraction. In the present case there

Heredofamilial juvenile muscular atrophy simulating muscular dystrophy.

Since 1945 the authors have personally examined 12 patients with a juvenile type of hereditary muscular atrophy, all of whom had earlier been considered to have muscular dystrophy of the limb-girdle type, which constitutes a distinct disease entity but seems to be little known.

Prenatal onset spinal muscular atrophy.