Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy.

Jones, Harrison N

Hobson-Webb, Lisa D

Kuchibhatla, Maragatha

Crisp, Kelly D

Whyte-Rayson, Ashley

Batten, Milisa T

Zwelling, Paul J

Kishnani, Priya S

2023-05-02T13:16:09Z

2023-05-02T13:16:09Z

2021-07

2023-05-02T13:16:09Z

Late-onset Pompe disease (LOPD) is an inherited autosomal recessive progressive metabolic myopathy that presents in the first year of life to adulthood. Clinical presentation is heterogeneous, differential diagnosis is challenging, and diagnostic delay is common. One challenge to differential diagnosis is the overlap of clinical features with those encountered in other forms of acquired/hereditary myopathy. Tongue weakness and imaging abnormalities are increasingly recognized in LOPD. In order to explore the diagnostic potential of tongue involvement in LOPD, we assessed tongue structure and function in 70 subjects, including 10 with LOPD naive to treatment, 30 with other acquired/hereditary myopathy, and 30 controls with neuropathy. Tongue strength was assessed with both manual and quantitative muscle testing. Ultrasound (US) was used to assess tongue overall appearance, echointensity, and thickness. Differences in tongue strength, qualitative appearance, echointensity, and thickness between LOPD subjects and neuropathic controls were statistically significant. Greater tongue involvement was observed in LOPD subjects compared to those with other acquired/hereditary myopathies, based on statistically significant decreases in quantitative tongue strength and sonographic muscle thickness. These findings provide additional evidence for tongue involvement in LOPD characterized by weakness and sonographic abnormalities suggestive of fibrofatty replacement and atrophy. Findings of quantitative tongue weakness and/or atrophy may aid differentiation of LOPD from other acquired/hereditary myopathies. Additionally, our experiences in this study reveal US to be an effective, efficient imaging modality to allow quantitative assessment of the lingual musculature at the point of care.

S1096-7192(21)00706-X

1096-7192

1096-7206

https://hdl.handle.net/10161/27297

eng

Elsevier BV

Molecular genetics and metabolism

10.1016/j.ymgme.2021.05.005

Tongue

Humans

Muscular Diseases

Muscle Weakness

Glycogen Storage Disease Type II

Atrophy

Diagnosis, Differential

Ultrasonography

Adult

Aged

Middle Aged

Female

Male

Young Adult

Delayed Diagnosis

Late Onset Disorders

Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy.

Journal article

Jones, Harrison N|0000-0002-4171-980X

Kishnani, Priya S|0000-0001-8251-909X

261

268

3

Duke

School of Medicine

Basic Science Departments

Clinical Science Departments

Institutes and Centers

Biostatistics & Bioinformatics

Molecular Genetics and Microbiology

Pediatrics

Psychiatry & Behavioral Sciences

Pediatrics, Medical Genetics

Duke Clinical Research Institute

Institutes and Provost's Academic Units

Neurology

Neurology, Neuromuscular Disease

Center for the Study of Aging and Human Development

Initiatives

Duke Innovation & Entrepreneurship

Head and Neck Surgery & Communication Sciences

Psychiatry & Behavioral Sciences, Behavioral Medicine & Neurosciences

Published

133