Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy

2004 ◽  
Vol 29 (5) ◽  
pp. 721-723 ◽  
Author(s):  
Naoki Suzuki ◽  
Masashi Aoki ◽  
Toshiaki Takahashi ◽  
Daiki Takano ◽  
Masahiro Asano ◽  
...  
Keyword(s):  
Muscle Atrophy ◽  
Late Onset ◽  
Miyoshi Myopathy

scholarly journals Activation of the ubiquitin-proteasome system contributes to oculopharyngeal muscular dystrophy through muscle atrophy

PLoS Genetics ◽  
2022 ◽  
Vol 18 (1) ◽  
pp. e1010015
Author(s):  
Cécile Ribot ◽  
Cédric Soler ◽  
Aymeric Chartier ◽  
Sandy Al Hayek ◽  
Rima Naït-Saïdi ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Muscle Atrophy ◽  
Late Onset ◽  
Oral Treatment ◽  
Ubiquitin Proteasome System ◽  
Proteasome Activity ◽  
Functional Study ◽  
Oculopharyngeal Muscular Dystrophy ◽  
Ubiquitin Proteasome ◽  
And Function

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset disorder characterized by progressive weakness and degeneration of specific muscles. OPMD is due to extension of a polyalanine tract in poly(A) binding protein nuclear 1 (PABPN1). Aggregation of the mutant protein in muscle nuclei is a hallmark of the disease. Previous transcriptomic analyses revealed the consistent deregulation of the ubiquitin-proteasome system (UPS) in OPMD animal models and patients, suggesting a role of this deregulation in OPMD pathogenesis. Subsequent studies proposed that UPS contribution to OPMD involved PABPN1 aggregation. Here, we use a Drosophila model of OPMD to address the functional importance of UPS deregulation in OPMD. Through genome-wide and targeted genetic screens we identify a large number of UPS components that are involved in OPMD. Half dosage of UPS genes reduces OPMD muscle defects suggesting a pathological increase of UPS activity in the disease. Quantification of proteasome activity confirms stronger activity in OPMD muscles, associated with degradation of myofibrillar proteins. Importantly, improvement of muscle structure and function in the presence of UPS mutants does not correlate with the levels of PABPN1 aggregation, but is linked to decreased degradation of muscle proteins. Oral treatment with the proteasome inhibitor MG132 is beneficial to the OPMD Drosophila model, improving muscle function although PABPN1 aggregation is enhanced. This functional study reveals the importance of increased UPS activity that underlies muscle atrophy in OPMD. It also provides a proof-of-concept that inhibitors of proteasome activity might be an attractive pharmacological approach for OPMD.

Late onset spinal muscle atrophy - a sex linked variant of Kugelberg-Welander

2009 ◽  
Vol 61 (1) ◽  
pp. 49-55 ◽  
Author(s):  
George W. Paulson ◽  
Leopold Liss ◽  
Patrick J. Sweeney
Keyword(s):  
Muscle Atrophy ◽  
Late Onset

scholarly journals Late-onset cervicoscapular muscle atrophy and weakness after radiotherapy for Hodgkin disease: a case series

2009 ◽  
Vol 81 (1) ◽  
pp. 101-104 ◽  
Author(s):  
A Furby ◽  
A Behin ◽  
J-P Lefaucheur ◽  
K Beauvais ◽  
P Marcorelles ◽  
...  
Keyword(s):  
Muscle Atrophy ◽  
Late Onset ◽  
Case Series ◽  
Hodgkin Disease

scholarly journals Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report

2012 ◽  
Vol 6 (1) ◽  
Author(s):  
Clemens Neusch ◽  
Tanja Kuhlmann ◽  
Wolfram Kress ◽  
Christiane Schneider-Gold
Keyword(s):  
Case Report ◽  
Late Onset ◽  
Calf Muscles ◽  
Miyoshi Myopathy

scholarly journals PENYAKIT CHARCOT MARIE TOOTH ONSET LANJUT

2020 ◽  
Vol 37 (2) ◽  
Author(s):  
Kenny Merryn ◽  
Jimmi Sabirin ◽  
Octaviani Octaviani
Keyword(s):  
Ascorbic Acid ◽  
Physical Examination ◽  
Muscle Atrophy ◽  
Late Onset ◽  
Pes Cavus ◽  
Charcot Marie Tooth ◽  
Longus Muscle ◽  
Extensor Hallucis Longus ◽  
Hammer Toes ◽  
Extensor Hallucis Longus Muscle

LATE ONSET CHARCOT MARIE TOOTH DISEASEABSTRACTCharcot Marie Tooth’s disease (CMT) is a hereditary sensoric motoric polineuropathy. Late onset CMT are rare reported in Indonesia. A woman 48 years old has numbness in her both arm and leg gradually since 5 years ago, followed by deformities and weakness. Her cousin has the same disease. In physical examination, there were flaccid type tetraparesis, socks and gloves hypesthesia, steppage gait, pes cavus, hammer toes, thenar, hypothenar, and extensor hallucis longus muscle atrophy bilaterally. Electrophysiology studies showed mixed sensoric and motoric polineuropathy with symetrically demyelinating and uniform slowing. Management were ascorbic acid, neurotrophic, physiotherapy, and occupational therapy.Keywords: Charcot Marie Tooth, hammer toes, pes cavus, steppage gaitABSTRAKPenyakitCharcot Marie Tooth (CMT) merupakan polineuropati motorik dan sensorik herediter. Kasus CMT onset lanjut di Indonesia masih sangat jarang dilaporkan. Seorang wanita 48 tahun mengalami kesemutan pada kedua lengan dan tungkai sejak 5 tahun secara perlahan diikuti perubahan bentuk tangan dan kaki serta kelemahan. Riwayat sepupu mengalami keluhan serupa. Pemeriksaan fisik didapatkan kelemahan kedua lengan dan tungkai tipe flaksid, hipestesi pola sarung tangan dan kaos kaki, steppage gait, pes cavus, hammer toes, atrofi otot tenar, hipotenar, dan ekstensor halusis longus bilateral. Pemeriksaan elektrofisiologi didapatkan polineuropati motorik sensorik dengan demielinisasi simetris dan perlambatan kecepatan konduksi seragam. Tata laksana pasien ini menggunakan asam askorbat, neurotropik, fisioterapi, dan terapi okupasi.Kata kunci: Charcot Marie Tooth, hammer toes, pes cavus, steppage gait

Late-Onset Anaphylaxis to Omalizumab Reported

2006 ◽  
Vol 37 (6) ◽  
pp. 6
Author(s):  
PATRICE WENDLING
Keyword(s):  
Late Onset

Familial Patterns of Risk in Very Late-Onset Alzheimer's Disease

2003 ◽  
Author(s):  
J. M. Silverman ◽  
C. J. Smith ◽  
D. B. Marin ◽  
R. C. Mohs ◽  
C. B. Propper
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Late Onset ◽  
Familial Patterns
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