scholarly journals Clinical manifestation, disease course and response to enzyme replacement therapy in Hungarian patients with Pompe’s disease

2011 ◽  
Vol 152 (39) ◽  
pp. 1569-1575
Author(s):  
Benjamin Bereznai ◽  
Anita Trauninger ◽  
Ilona György ◽  
Katalin Szakszon ◽  
Zsuzsanna Almássy ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Age Of Onset ◽  
Late Onset ◽  
Phenotypic Variability ◽  
Motor Deficits ◽  
Enzyme Replacement ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Long Term Follow Up

Pompe’s disease is an autosomal recessive disease caused by deficiency of acid-alpha-glucosidase. Aims and Methods: Authors analyzed the phenotype of 11 Hungarian patients with Pompe’s disease and evaluated clinical parameters and response to enzyme replacement therapy during a long-term follow-up in 8 patients. Results: One patient with atypical infantile form presented with cardiomyopathy and a very slow progression of motor deficits; after 2 years of enzyme replacement therapy no disability was present at the age 6 years. Another patient was asymptomatic at the age of 2.5 years. The adult onset form was characterized by slight to prominent limb-girdle myopathy with an age of onset between 20 and 50 years. In 3 of such cases respiratory insufficiency was also present. Conclusions: Hungarian patients with Pompe’s disease presented with a wide phenotypic variability ranging from atypical early childhood form with slowly progressive course to late-onset limb-girdle myopathy with variable courses. Enzyme replacement therapy resulted in significant improvement in motor and respiratory functions in most of the patients. Orv. Hetil., 2011, 152, 1569–1575.

Enzyme replacement therapy in late-onset Pompe's disease: A three-year follow-up

2004 ◽  
Vol 55 (4) ◽  
pp. 495-502 ◽  
Author(s):  
L�on P. F. Winkel ◽  
Johanna M. P. Van den Hout ◽  
Joep H. J. Kamphoven ◽  
Janus A. M. Disseldorp ◽  
Maaike Remmerswaal ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Late Onset ◽  
Enzyme Replacement ◽  
Pompe’S Disease ◽  
Pompe's Disease

Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy

2003 ◽  
Vol 27 (6) ◽  
pp. 743-751 ◽  
Author(s):  
L�on P. F. Winkel ◽  
Joep H. J. Kamphoven ◽  
Hannerieke J. M. P. Van Den Hout ◽  
Lies A. Severijnen ◽  
Pieter A. Van Doorn ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Muscle Tissue ◽  
Morphological Changes ◽  
Enzyme Replacement ◽  
Pompe’S Disease ◽  
Pompe's Disease

scholarly journals Rare Diseases in Neurology — Caring for a Patient with Pompe’s Disease

2019 ◽  
Vol 8 (4) ◽  
pp. 170-176
Author(s):  
Anna Roszmann ◽  
◽  
Mikołaj Hamerski ◽  
Marcelina Skrzypek-Czerko ◽  
◽  
...  
Keyword(s):  
Clinical Picture ◽  
Pompe Disease ◽  
Age Of Onset ◽  
Late Onset ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Disease Case ◽  
Nurses Role

Introduction. Pompe disease, a severe metabolic myopathy, is caused by mutations in the gene coding for acid alphaglucosidase (GAA), what lead to intralysosomal accumulation of glycogen in all tissues, most notably in skeletal muscles. Pompe disease was the first documented lysosomal storage disease, nowadays we know around 60 similar disorders. Aim. Presentation of the clinical picture of a man with Pompe’s disease. Case Report. A man at the age of 40, diagnosis of the Pompe’s disease was made only at the age of 31. The first symptoms, indicating the patient’s development of the disease, were already present in the early school age. At first, the clinical picture presented by the patient led to the diagnosis of muscular dystrophy. Discussion. Pompe disease presents as a continuum of clinical phenotypes that differ by age of onset, severity, and organ involvement. Pompe disease affects people of all ages with varying degrees of severity. Two main broad types are recognized based on the onset of symptoms and the presence or absence of cardiomyopathy. Infantile onset Pompe disease (IOPD) as one, and the most severe for mod the disease. Other and less destructive is late-onset Pompe disease (LOPD) manifests any time after 12 months of age. The disease can be successfully treated by enzyme replacement therapy with alglucosidase alfa that was approved for human use in 2006. Conclusions. In big importance is nurses role as educators and support for the patients during their hospitalizations for medicine infusions twice a month. It time when the knowledge and significance of proper life style can be discussed and implemented to empower the patients. (JNNN 2019;8(4):170–176) Key Words: Pompe’s disease, treatment, diagnosis, care

scholarly journals Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease

2010 ◽  
Vol 68 (2) ◽  
pp. 194-197 ◽  
Author(s):  
Anderson Kuntz Grzesiuk ◽  
Sueli Mieko Oba Shinjo ◽  
Roseli da Silva ◽  
Marcela Machado ◽  
Marcial Francis Galera ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Age Of Onset ◽  
Late Onset ◽  
Activity Measurement ◽  
Respiratory Compromise ◽  
Enzyme Replacement ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
C 32 ◽  
Gaa Gene

Pompe's disease (PD) is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid α-glucosidase (GAA) enzyme deficiency. Childhood and late-onset forms are described, differing by the age of onset and symptoms. In this study were analyzed affected siblings with Pompe's disease (PD) and their distinct clinical and pathological presentations. METHOD: Diagnosis was performed by the clinical presentation of limb-girdle dystrophies and respiratory compromise. Confirmatory diagnoses were conducted by muscle biopsy, GAA activity measurement and by GAA gene genotyping. RESULTS: The findings suggested muscular involvement due to GAA deficiency. GAA genotyping showed they are homozygous for the c.-32-3C>A mutation. CONCLUSION: Herein we reported a family where three out of five siblings were diagnosed with late-onset PD, although it is a rare metabolic disease inherited in an autossomal recessive manner. We emphasize the importance of including this presentation within the differential diagnoses of the limb-girdle dystrophies once enzyme replacement therapy is available.

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