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Spinal muscular atrophy.

Susan T Iannaccone¹, Stephen A Smith, Louise R Simard

¹Division of Neuromuscular Disease and Neurorehabilitation, Texas Scottish Rite Hospital for Children, 2222 Welborn Street, Dallas, TX 75219, USA. susan.iannaccone@tsrh.org

Current Neurology and Neuroscience Reports

|December 20, 2003

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Spinal muscular atrophy (SMA) is a severe infant genetic disease lacking treatment. Advances in understanding SMN protein and new drugs offer hope for clinical trials and improved patient outcomes.

Area of Science:

Neurology
Genetics
Pediatrics

Background:

Spinal muscular atrophy (SMA) is a frequent, fatal genetic motor neuron disease.
High infant mortality is linked to progressive restrictive lung disease.
Currently, no definitive treatment exists for SMA.

Purpose of the Study:

To review the current understanding of SMA.
To explore the potential for new therapeutic strategies.
To discuss the role of supportive care in managing SMA.

Main Methods:

Review of existing literature on SMA.
Analysis of recent research on SMN protein.
Evaluation of emerging pharmacologic agents.

Main Results:

Related Experiment Videos

New insights into SMN protein function are available.
Novel pharmacologic agents are being developed.
Clinical trials for SMA are becoming feasible.

Conclusions:

Understanding SMN protein and new drugs pave the way for clinical trials.
Rehabilitation and medical management enhance quality and duration of life for SMA patients.