Home > Publications Database > Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis. > print

001     154279
005     20240322115503.0
024 7 _ |a 10.1007/s10072-020-04896-3
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024 7 _ |a 1590-1874
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024 7 _ |a 1590-3478
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037 _ _ |a DZNE-2021-00133
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Zimmermann, Milan
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245 _ _ |a Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis.
260 _ _ |a Milano
|c 2021
|b Springer
336 7 _ |a article
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500 _ _ |a ISSN 1590-3478 not unique: **3 hits**.
520 _ _ |a Hereditary transthyretin amyloidosis with polyneuropathy (hATTRPN) is an autosomal dominant multi-organ disorder manifesting in the third to fifth decade with the key clinical features of distal and painful sensory loss of the lower limbs and autonomic dysregulation. Motor neuropathy and cardiomyopathy evolve in the course of the disease. Pompe disease is an autosomal recessive disease leading to decreased levels of lysosomal enzyme acid α-glucosidase and proximal muscle weakness. We report the clinical features and diagnostic workup in the rare case of a patient with ATTR amyloidosis and late-onset Pompe disease, both genetically confirmed.We performed a detailed clinical assessment, exome sequencing, and biochemical measurements.The patient presented with a distal, painful hypaesthesia of both legs, a cardiomyopathy, and a muscle weakness in the form of a girdle-type pattern of the arms and legs at the beginning and a spreading to distal muscle groups in the course of disease.This study highlights the importance of searching for co-occurrence of rare monogenetic neuromuscular diseases, especially in cases in which all clinical features can be readily explained by a single gene defect.
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650 _ 7 |a Amyloidosis
|2 Other
650 _ 7 |a Axonal degeneration
|2 Other
650 _ 7 |a Polyneuropathy
|2 Other
650 _ 7 |a Pompe disease
|2 Other
650 _ 7 |a Transthyretin
|2 Other
650 _ 2 |a Aged
|2 MeSH
650 _ 2 |a Aged, 80 and over
|2 MeSH
650 _ 2 |a Amyloid Neuropathies, Familial: complications
|2 MeSH
650 _ 2 |a Amyloid Neuropathies, Familial: genetics
|2 MeSH
650 _ 2 |a Cardiomyopathies
|2 MeSH
650 _ 2 |a Glycogen Storage Disease Type II: complications
|2 MeSH
650 _ 2 |a Glycogen Storage Disease Type II: genetics
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Middle Aged
|2 MeSH
650 _ 2 |a Polyneuropathies
|2 MeSH
650 _ 2 |a Prealbumin
|2 MeSH
700 1 _ |a Deininger, Natalie
|b 1
700 1 _ |a Willikens, Sophia
|b 2
700 1 _ |a Haack, Tobias B
|b 3
700 1 _ |a Grundmann-Hauser, Kathrin
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700 1 _ |a Streubel, Berthold
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700 1 _ |a Schreiber, Melanie
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700 1 _ |a Lerche, Holger
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700 1 _ |a Grimm, Alexander
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773 _ _ |a 10.1007/s10072-020-04896-3
|g Vol. 42, no. 4, p. 1523 - 1525
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|t Neurological sciences
|v 42
|y 2021
|x 1590-3478
856 4 _ |u https://link.springer.com/article/10.1007/s10072-020-04896-3
856 4 _ |u https://pub.dzne.de/record/154279/files/DZNE-2021-00133.pdf
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