<i>Fukutin</i> gene mutations in steroid‐responsive limb girdle muscular dystrophy

Godfrey, Caroline; Escolar, Diana M.; Brockington, M; Clement, Emma; Mein, R.; Jiménez‐Mallebrera, Cecilia; Torelli, Silvia; Feng, Lucy; Brown, Susan C.; Sewry, Caroline A.; Rutherford, Mary; Shapira, Yehuda; Abbs, Stephen; Muntoni, Francesco

doi:10.1002/ana.21006

Cited by 144 publications

(85 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Wong-Kisielet et al described stabilization and improvement of muscle strength in two siblings with b-SG after 30 months of deflazacort therapy 20 . In other forms of muscular dystrophies there have also been reports of a positive response to corticosteroids [21][22] . Godfrey et al described three children with an LGMD phenotype and pathogenic fukutin mutation that had a remarkable steroid responsiveness 21 .…”

Section: Discussionmentioning

confidence: 99%

Clinical aspects of patients with sarcoglycanopathies under steroids therapy

Albuquerque

Abath-Neto

Maximino

et al. 2014

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

Patients with sarcoglycanopathies, which comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies, usually present with progressive weakness leading to early loss of ambulation and premature death, and no effective treatment is currently available. Objective: To present clinical aspects and outcomes of six children with sarcoglycanopathies treated with steroids for at least one year. Method: Patient files were retrospectively analyzed for steroid use. Results: Stabilization of muscle strength was noted in one patient, a slight improvement in two, and a slight worsening in three. In addition, variable responses of forced vital capacity and cardiac function were observed. Conclusions: No overt clinical improvement was observed in patients with sarcoglycanopathies under steroid therapy. Prospective controlled studies including a larger number of patients are necessary to determine the effects of steroids for sarcoglycanopathies.Keywords: steroids, limb-girdle muscular dystrophy, sarcoglycan proteins, myopathy. RESUMOPacientes com sarcoglicanopatias, que compreendem quatro subtipos de distrofias musculares de cinturas autossômicas recessivas, geralmente apresentam fraqueza progressiva, levando à perda precoce da deambulação e morte prematura, e não há tratamento eficaz disponível até o momento. Objetivo: Descrever os aspectos clínicos e a evolução de seis crianças com sarcoglicanopatias tratados com corticosteróides por pelo menos um ano. Método: Prontuários dos pacientes foram analisados retrospectivamente. Resultados: Estabilização da força muscular foi observada em um paciente, uma ligeira melhora em dois, e um ligeiro agravamento em três. Além disso, foram observadas respostas variáveis de capacidade vital forçada e da função cardíaca. Conclusões: Não houve melhora clínica evidente em pacientes com sarcoglicanopatias sob terapia com corticosteróides. Estudos prospectivos controlados incluindo maior número de pacientes são necessários para determinar os efeitos dos corticosteróides para sarcoglicanopatias.Palavras-chave: corticosteróides, distrofia muscular de cinturas, proteínas sarcoglicanas, miopatia.

show abstract

Section: Discussionmentioning

confidence: 99%

Clinical aspects of patients with sarcoglycanopathies under steroids therapy

Albuquerque

Abath-Neto

Maximino

et al. 2014

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

show abstract

“…The remaining patients had no structural brain involvement; one case had CMD-no mental retardation and never acquired the ability to walk but has normal IQ and five individuals from three families have entirely normal intellect and a mild LGMD phenotype (LGMD 2M). Interestingly in the latter two of these families, a dramatic response to steroid therapy was noted (Godfrey et al, 2006).…”

Section: Worldwide Distribution Of Fukutin Mutationmentioning

confidence: 97%

“…Godfrey et al (2006Godfrey et al ( , 2007 reported on five nonJapanese children from three families with normal intelligence and limb-girdle phenotype, caused by heterozygous point mutations in the FKTN gene. Puckett et al (2009) reported an additional two brothers with a LGMD phenotype due to compound heterozygous FKTN mutation.…”

Section: Milder Phenotype Of Fcmdmentioning

confidence: 99%

Alpha-Dystroglycanopathy

Yoshioka¹

2012

Muscular Dystrophy

View full text Add to dashboard Cite

“…Although no trials have been conducted on glucocorticosteroid treatment in LGMD2I, there is a report of benefit, 93 which has also been seen in LGMD2K. 94 A recent study that looked at the effect of moderate-intensity endurance training showed that it is a safe method to increase exercise performance and daily function in patients with LGMD2I. 95 Exercise studies in other forms of LGMD2 have not yet been systematically performed.…”

Section: Lgmd2 Associated With Secondary Reduction In Alpha Dystroglycanmentioning

confidence: 99%

Therapeutic Possibilities in the Autosomal Recessive Limb-Girdle Muscular Dystrophies

Straub

Bushby

2008

Neurotherapeutics

View full text Add to dashboard Cite

Summary:Fourteen years ago, the first disease-causing mutation in a form of autosomal recessive limb-girdle muscular dystrophy was reported. Since then the number of genes has been extended to at least 14 and the phenotypic spectrum has been broadened. The generation of mouse models helped to improve our understanding of the pathogenesis of the disease and also served to study therapeutic possibilities. All autosomal recessive limb-girdle muscular dystrophies are rare diseases, which is one reason why there have been so very few controlled clinical trials. Other reasons are insufficient natural history data and the lack of standardized assessment criteria and validated outcome measures. Currently, therapeutic possibilities are mainly restricted to symptomatic treatment and the treatment of disease complications. On the other hand, new efforts in translational research and the development of molecular therapeutic approaches suggest that more promising clinical trials will be carried out in autosomal recessive limb-girdle muscular dystrophy in the next several years.

show abstract

Fukutin gene mutations in steroid‐responsive limb girdle muscular dystrophy

Cited by 144 publications

References 31 publications

Clinical aspects of patients with sarcoglycanopathies under steroids therapy

Clinical aspects of patients with sarcoglycanopathies under steroids therapy

Alpha-Dystroglycanopathy

Therapeutic Possibilities in the Autosomal Recessive Limb-Girdle Muscular Dystrophies

Contact Info

Product

Resources

About