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06:12
Dissection of the Transversus Abdominis Muscle for Whole-mount Neuromuscular Junction Analysis
Published on: January 11, 2014
Function changes in spinal muscular atrophy II and III. The DCN/SMA Group
B S Russman1, C R Buncher, M White
1Department of Pediatrics, University of Connecticut Medical School, Newington, USA.
Neurology
|October 1, 1996
Summary
Spinal muscular atrophy (SMA) progression varies. Age of onset and maximum achieved function help predict disease course, particularly the loss of independent walking ability in SMA patients.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Spinal muscular atrophy (SMA) prognosis is poorly understood, especially for patients beyond the severe SMA I (Werdnig-Hoffmann disease) classification.
- Identifying prognostic markers is crucial for managing SMA patients and their functional decline.
Purpose of the Study:
- To establish prognostic guides for spinal muscular atrophy (SMA) based on age of onset and maximum achieved motor function.
- To analyze the rate and pattern of functional loss in SMA patients over time.
Main Methods:
- Retrospective analysis of a cohort of spinal muscular atrophy (SMA) patients.
- Correlation of age of onset and maximum functional milestones (e.g., walking, sitting) with disease progression and functional loss.
Main Results:
- Patients walking independently with onset before age 2 lost this ability by age 12 (50%).
- Patients walking independently with onset between ages 2-6 lost this ability by age 44 (50%).
- Independent sitting ability was maintained long-term (≥7 years) in 75% of patients, with 50% maintaining it past age 14.
Conclusions:
- Age of onset and maximum achieved function are significant prognostic indicators in spinal muscular atrophy (SMA).
- Functional loss in SMA is gradual and primarily linked to the highest motor milestone achieved.
- Understanding these factors aids in predicting disease trajectory and managing patient care.
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