Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 May;63(5):765-769.
doi: 10.1002/mus.27204. Epub 2021 Feb 26.

Preserved eye movements in adults with spinal muscular atrophy

Evangelos Anagnostou  1 , Sophia Xirou  1 , Evangelia Kararizou  1 , Leonidas Stefanis  1 , Constantinos Papadopoulos  1 , George Papadimas  1
Affiliations

Preserved eye movements in adults with spinal muscular atrophy

Evangelos Anagnostou et al. Muscle Nerve. 2021 May.

Abstract

Introduction: Spinal muscular atrophy (SMA) most prominently affects proximal limb and bulbar muscles. Despite older case descriptions, ocular motor neuron palsies or other oculomotor abnormalities are not considered part of the phenotype.

Methods: We investigated oculomotor function by testing saccadic eye movements of 15 patients with SMA. Their performance was compared with that of age-matched healthy controls. Horizontal rightward and leftward saccades were recorded by means of video-oculography, whereas subjects looked at light-emitting diode targets placed at ±5°, ±10°, and ±15° eccentricities.

Results: No differences in saccade amplitude gains, peak velocities, peak velocity-to-amplitude ratios, or durations were observed between controls and patients. More specifically, for 5° target eccentricities, patients had a mean saccadic peak velocity of 153°/s, whereas for 10° and 15° these values were 268°/s and 298°/s, respectively. The corresponding mean peak velocities of the control group were 151°/s, 264°/s, and 291°/s.

Discussion: Our results indicate that patients with SMA perform fast and accurate horizontal saccades without evidence of extraocular muscle weakness. These quantitative oculomotor data corroborate clinical experience that neuro-ophthalmic symptoms in SMA are not common and, if present, should prompt suspicion for an alternative neuromuscular disorder.

Keywords: extraocular muscles; eye movements; neuro-ophthalmology; saccades; spinal muscular atrophy.

PubMed Disclaimer

References

REFERENCES

    1. Ramdas S, Servais L. New treatments in spinal muscular atrophy: an overview of currently available data. Expert Opin Pharmacother. 2020;21:307-315.
    1. Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51:157-167.
    1. Rosenberg RN, Schotland DL, Lovelace RE, Rowland LP. Progressive Ophthalmoplegia: report of cases. Arch Neurol. 1968;19:362-376.
    1. Aberfeld DC, Namba T. Progressive ophthalmoplegia in Kugelberg-Welander disease: report of a case. Arch Neurol. 1969;20:253-256.
    1. Pachter BR, Pearson J, Davidowitz J, et al. Congenital total external ophthalmoplegia associated with infantile spinal muscular atrophy. Fine structure of extraocular muscle. Invest Ophthalmol. 1976;15:320-324.

LinkOut - more resources