TY - JOUR
T1 - Gait characterization and analysis of hereditary amyloidosis associated with transthyretin patients
T2 - a case series
AU - Vilas-Boas, Maria do Carmo
AU - Fonseca, Pedro Filipe Pereira
AU - Sousa, Inês Martins
AU - Cardoso, Márcio Neves
AU - Cunha, João Paulo Silva
AU - Coelho, Teresa
N1 - Funding Information:
Funding: This work was supported by the National funding agency, FCT—Fundação para a Ciência e a Tecnologia, in the context of the project [LA/P/0063/2020] and by the Porto University Hospital Center (CHUP) in the context of the scholarship [BI.02/2018/UCA/CHP].
Publisher Copyright:
© 2022 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2022/7/1
Y1 - 2022/7/1
N2 - 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.
AB - 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.
KW - ATTRv amyloidosis
KW - Clinical neurology
KW - Familial Amyloid Polyneuropathy
KW - Gait analysis
KW - Movement quantification
KW - Peripheral neuropathy
UR - http://www.scopus.com/inward/record.url?scp=85133615012&partnerID=8YFLogxK
U2 - 10.3390/jcm11143967
DO - 10.3390/jcm11143967
M3 - Article
C2 - 35887731
AN - SCOPUS:85133615012
SN - 2077-0383
VL - 11
JO - Journal of Clinical Medicine
JF - Journal of Clinical Medicine
IS - 14
M1 - 3967
ER -