Key result
Juvenile- and adult-onset spinal muscular atrophy was associated with abnormal lipid phenotypes in 91.7% (11/12) of patients, suggesting a link to neuronal degeneration.
Observational (n=12)
The study suggests a possible relationship between serum lipid abnormalities and neuronal degeneration in spinal muscular atrophies.
May warrant lipid screening in spinal muscular atrophy; leaves open causal link to neuronal degeneration.
Twelve patients with juvenile- and adult-onset spinal muscular atrophy have been studied. Eleven of the twelve patients had either type II, type IV, or borderline abnormal phenotypes, suggesting a possible relationship between serum lipid abnormalities and neuronal degeneration in the spinal muscular atrophies. Muscle enzyme histochemical studies provided valuable diagnostic information. Extensor toe signs and talipes cavus were common clinical observations.
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David S. Dahl (1975) conducted an observational in Spinal muscular atrophy (n=12). Juvenile- and adult-onset spinal muscular atrophy was evaluated on Abnormal lipid phenotypes (type II, type IV, or borderline). Juvenile- and adult-onset spinal muscular atrophy was associated with abnormal lipid phenotypes in 91.7% (11/12) of patients, suggesting a link to neuronal degeneration.
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