scholarly journals Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease

2019 ◽  
Vol 7 (13) ◽  
pp. 276-276 ◽  
Author(s):  
Jousef Alandy-dy ◽  
Marie Wencel ◽  
Kathy Hall ◽  
Julie Simon ◽  
Yanjun Chen ◽  
...  
Keyword(s):  
Clinical Features ◽  
Pompe Disease ◽  
Late Onset

scholarly journals Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis

2020 ◽  
Author(s):  
Milan Zimmermann ◽  
Natalie Deininger ◽  
Sophia Willikens ◽  
Tobias B. Haack ◽  
Kathrin Grundmann-Hauser ◽  
...  
Keyword(s):  
Clinical Features ◽  
Muscle Weakness ◽  
Pompe Disease ◽  
Late Onset ◽  
Single Gene ◽  
Lower Limbs ◽  
Sensory Loss ◽  
Motor Neuropathy ◽  
Transthyretin Amyloidosis ◽  
Attr Amyloidosis

Abstract Introduction/aims 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. Methods We performed a detailed clinical assessment, exome sequencing, and biochemical measurements. Results 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. Discussion 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.

Clinical features of late-onset Pompe disease: A prospective cohort study

2008 ◽  
Vol 38 (4) ◽  
pp. 1236-1245 ◽  
Author(s):  
John H.J. Wokke ◽  
Diana M. Escolar ◽  
Alan Pestronk ◽  
Kenneth M. Jaffe ◽  
Gregory T. Carter ◽  
...  
Keyword(s):  
Cohort Study ◽  
Clinical Features ◽  
Prospective Cohort Study ◽  
Pompe Disease ◽  
Prospective Cohort ◽  
Late Onset

P.309 Late-life depression: How do patients with early-onset vs late-onset differ in clinical features and treatment response?

2020 ◽  
Vol 31 ◽  
pp. S52-S53
Author(s):  
W.R. Chae ◽  
M. Fuentes Casan ◽  
F. Gutknecht ◽  
A. Ljubez ◽  
S.M. Gold ◽  
...  
Keyword(s):  
Treatment Response ◽  
Clinical Features ◽  
Early Onset ◽  
Late Onset ◽  
Late Life ◽  
Late Life Depression

Late onset Pompe Disease in India – Beyond the Caucasian phenotype

2021 ◽  
Author(s):  
Ratna Dua Puri ◽  
Nitika Setia ◽  
Vinu N ◽  
Sujatha Jagadeesh ◽  
Sheela Nampoothiri ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Late Onset

NEO1/NEO-EXT studies: Safety and exploratory efficacy of repeat avalglucosidase alfa dosing after up to 6 years in participants with late-onset pompe disease (LOPD)

2021 ◽  
Vol 132 (2) ◽  
pp. S34
Author(s):  
Mazen M. Dimachkie ◽  
Richard J. Barohn ◽  
Barry Byrne ◽  
Ozlem Goker-Alpan ◽  
Priya S. Kishnani ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Late Onset

scholarly journals Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families

2021 ◽  
Vol 22 (7) ◽  
pp. 3625
Author(s):  
Filomena Napolitano ◽  
Giorgia Bruno ◽  
Chiara Terracciano ◽  
Giuseppina Franzese ◽  
Nicole Piera Palomba ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Rare Variants ◽  
Clinical Symptoms ◽  
Late Onset ◽  
Respiratory Muscles ◽  
Autosomal Recessive Disorder ◽  
Compound Heterozygous ◽  
Enzyme Replacement ◽  
Whole Exome ◽  
Clinical Pictures

Pompe disease is an autosomal recessive disorder caused by a deficiency in the enzyme acid alpha-glucosidase. The late-onset form of Pompe disease (LOPD) is characterized by a slowly progressing proximal muscle weakness, often involving respiratory muscles. In LOPD, the levels of GAA enzyme activity and the severity of the clinical pictures may be highly variable among individuals, even in those who harbour the same combination of GAA mutations. The result is an unpredictable genotype–phenotype correlation. The purpose of this study was to identify the genetic factors responsible for the progression, severity and drug response in LOPD. We report here on a detailed clinical, morphological and genetic study, including a whole exome sequencing (WES) analysis of 11 adult LOPD siblings belonging to two Italian families carrying compound heterozygous GAA mutations. We disclosed a heterogeneous pattern of myopathic impairment, associated, among others, with cardiac defects, intracranial vessels abnormality, osteoporosis, vitamin D deficiency, obesity and adverse response to enzyme replacement therapy (ERT). We identified deleterious variants in the genes involved in autophagy, immunity and bone metabolism, which contributed to the severity of the clinical symptoms observed in the LOPD patients. This study emphasizes the multisystem nature of LOPD and highlights the polygenic nature of the complex phenotype disclosed in these patients.

Expanding the phenotype of late-onset pompe disease: Tongue weakness: A new clinical observation

2011 ◽  
Vol 44 (6) ◽  
pp. 897-901 ◽  
Author(s):  
Alberto Dubrovsky ◽  
Jose Corderi ◽  
Min Lin ◽  
Priya S. Kishnani ◽  
Harrison N. Jones
Keyword(s):  
Pompe Disease ◽  
Clinical Observation ◽  
Late Onset
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