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Adult Pompe disease: clinical manifestations and outcome of the first Greek patients receiving enzyme replacement therapy.
Clin Neurol Neurosurg 2011; 113(4):303-7CN

Abstract

OBJECTIVE

Pompe disease is an autosomal recessive lysosomal disorder caused by α-glucosidase deficiency. A specific treatment for the disease with enzyme replacement therapy is currently available. The aim of the present study is to describe the clinical manifestations and the effect of treatment in the first Greek patients with the adult form of the disease.

METHODS

Five Greek patients with adult onset Pompe disease aged between 40 and 73 years received 20 mg/kg Myozyme intravenously at two weekly intervals over a different period. Clinical and functional parameters were longitudinally registered.

RESULTS

Proximal muscle weakness and respiratory insufficiency were the most common manifestations of the disease, but their severity was different even among patients with similar genotype. The effect of treatment varied with most patients experiencing some improvement in muscle strength and fatigability, while the most severely affected patient did not benefit and stopped therapy.

CONCLUSION

No clear genotype-phenotype correlation emerges from our study. The different effect of treatment on our patients seems to be mainly related to their pre-treatment condition and can be reliably assessed only on a long term basis.

Authors+Show Affiliations

Department of Neurology, University of Athens, School of Medicine, Eginition Hospital, Athens, Greece. gkpapad@yahoo.grNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

21216089

Citation

Papadimas, G K., et al. "Adult Pompe Disease: Clinical Manifestations and Outcome of the First Greek Patients Receiving Enzyme Replacement Therapy." Clinical Neurology and Neurosurgery, vol. 113, no. 4, 2011, pp. 303-7.
Papadimas GK, Spengos K, Konstantinopoulou A, et al. Adult Pompe disease: clinical manifestations and outcome of the first Greek patients receiving enzyme replacement therapy. Clin Neurol Neurosurg. 2011;113(4):303-7.
Papadimas, G. K., Spengos, K., Konstantinopoulou, A., Vassilopoulou, S., Vontzalidis, A., Papadopoulos, C., ... Manta, P. (2011). Adult Pompe disease: clinical manifestations and outcome of the first Greek patients receiving enzyme replacement therapy. Clinical Neurology and Neurosurgery, 113(4), pp. 303-7. doi:10.1016/j.clineuro.2010.12.005.
Papadimas GK, et al. Adult Pompe Disease: Clinical Manifestations and Outcome of the First Greek Patients Receiving Enzyme Replacement Therapy. Clin Neurol Neurosurg. 2011;113(4):303-7. PubMed PMID: 21216089.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Adult Pompe disease: clinical manifestations and outcome of the first Greek patients receiving enzyme replacement therapy. AU - Papadimas,G K, AU - Spengos,K, AU - Konstantinopoulou,A, AU - Vassilopoulou,S, AU - Vontzalidis,A, AU - Papadopoulos,C, AU - Michelakakis,H, AU - Manta,P, Y1 - 2011/01/07/ PY - 2010/02/01/received PY - 2010/11/29/revised PY - 2010/12/09/accepted PY - 2011/1/11/entrez PY - 2011/1/11/pubmed PY - 2011/7/30/medline SP - 303 EP - 7 JF - Clinical neurology and neurosurgery JO - Clin Neurol Neurosurg VL - 113 IS - 4 N2 - OBJECTIVE: Pompe disease is an autosomal recessive lysosomal disorder caused by α-glucosidase deficiency. A specific treatment for the disease with enzyme replacement therapy is currently available. The aim of the present study is to describe the clinical manifestations and the effect of treatment in the first Greek patients with the adult form of the disease. METHODS: Five Greek patients with adult onset Pompe disease aged between 40 and 73 years received 20 mg/kg Myozyme intravenously at two weekly intervals over a different period. Clinical and functional parameters were longitudinally registered. RESULTS: Proximal muscle weakness and respiratory insufficiency were the most common manifestations of the disease, but their severity was different even among patients with similar genotype. The effect of treatment varied with most patients experiencing some improvement in muscle strength and fatigability, while the most severely affected patient did not benefit and stopped therapy. CONCLUSION: No clear genotype-phenotype correlation emerges from our study. The different effect of treatment on our patients seems to be mainly related to their pre-treatment condition and can be reliably assessed only on a long term basis. SN - 1872-6968 UR - https://www.unboundmedicine.com/medline/citation/21216089/Adult_Pompe_disease:_clinical_manifestations_and_outcome_of_the_first_Greek_patients_receiving_enzyme_replacement_therapy_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0303-8467(10)00391-4 DB - PRIME DP - Unbound Medicine ER -