Gait Characterization and Analysis of Hereditary Amyloidosis Associated with Transthyretin Patients: A Case Series

Hereditary amyloidosis associated with transthyretin (ATTRv), is a rare autosomal dominant disease characterized by length-dependent symmetric polyneuropathy that has gait impairment as one of its consequences. The gait pattern of V30M ATTRv amyloidosis patients has been described as similar to that...

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Published in:Journal of clinical medicine 2022-07, Vol.11 (14), p.3967
Main Authors: Vilas-Boas, Maria do Carmo, Fonseca, Pedro Filipe Pereira, Sousa, Inês Martins, Cardoso, Márcio Neves, Cunha, João Paulo Silva, Coelho, Teresa
Format: Article
Language:English
Subjects:
Amyloidosis
Cameras
Clinical medicine
Diabetes
Diabetic neuropathy
Gait
Motion capture
Mutation
Patients
Walking
Wheelchairs
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Summary:Hereditary amyloidosis associated with transthyretin (ATTRv), is a rare autosomal dominant disease characterized by length-dependent symmetric polyneuropathy that has gait impairment as one of its consequences. The gait pattern of V30M ATTRv amyloidosis patients has been described as similar to that of diabetic neuropathy, associated with steppage, but has never been quantitatively characterized. In this study we aim to characterize the gait pattern of patients with V30M ATTRv amyloidosis, thus providing information for a better understanding and potential for supporting diagnosis and disease progression evaluation. We present a case series in which we conducted two gait analyses, 18 months apart, of five V30M ATTRv amyloidosis patients using a 12-camera, marker based, optical system as well as six force platforms. Linear kinematics, ground reaction forces, and angular kinematics results are analyzed for all patients. All patients, except one, showed a delayed toe-off in the second assessment, as well as excessive pelvic rotation, hip extension and external transverse rotation and knee flexion (in stance and swing phases), along with reduced vertical and mediolateral ground reaction forces. The described gait anomalies are not clinically quantified; thus, gait analysis may contribute to the assessment of possible disease progression along with the clinical evaluation.
ISSN:2077-0383
2077-0383
DOI:10.3390/jcm11143967