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1. 顔面肩甲上腕型筋ジストロフィー facioscapulohumeral muscular dystrophy
2. 心疾患関連する遺伝性症候群 inherited syndromes associated with cardiac disease
3. 眼咽頭型、遠位型，および先天性筋ジストロフィー oculopharyngeal distal and congenital muscular dystrophies
4. 肢帯型筋ジストロフィー limb girdle muscular dystrophy
5. 筋力低下患者へのアプローチ approach to the patient with muscle weakness

English Journal

Correction of the FSHD myoblast differentiation defect by fusion with healthy myoblasts.

Dib C1, Saada YB1, Dmitriev P1, Richon C2, Dessen P2, Laoudj-Chenivesse D3, Carnac G3, Lipinski M1, Vassetzky YS1.
Journal of cellular physiology.J Cell Physiol.2016 Jan;231(1):62-71. doi: 10.1002/jcp.25110.
Facioscapulohumeral dystrophy (FSHD) is a neuromuscular disease with a prevalence that could reach 1 in 8,000 characterized by progressive asymmetric muscle weakness. Myoblasts isolated from FSHD muscles exhibit morphological differentiation defects and show a distinct transcription profile. These a
PMID 26218298

Functional impact of vibratory proprioceptive assistance in patients with facioscapulohumeral muscular dystrophy.

Ribot-Ciscar E1, Milhe-De Bovis V2, Aimonetti JM1, Lapeyssonnie B2, Campana-Salort E2, Pouget J2, Attarian S2.
Muscle & nerve.Muscle Nerve.2015 Nov;52(5):780-7. doi: 10.1002/mus.24605. Epub 2015 Sep 3.
INTRODUCTION: In this study we analyzed the effects of a rehabilitation method based on the use of vibratory proprioceptive assistance (VPA) in subjects with facioscapulohumeral muscular dystrophy.METHODS: Eight subjects were given 1 month of mechanical vibratory treatment that consisted of 8 sessio
PMID 25678042

Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways.

Rickard AM1, Petek LM1, Miller DG2.
Human molecular genetics.Hum Mol Genet.2015 Oct 15;24(20):5901-14. doi: 10.1093/hmg/ddv315. Epub 2015 Aug 5.
Facioscapulohumeral muscular dystrophy (FSHD) is caused by chromatin relaxation that results in aberrant expression of the transcription factor Double Homeobox 4 (DUX4). DUX4 protein is present in a small subset of FSHD muscle cells, making its detection and analysis of its effects historically diff
PMID 26246499

Corrado Bruno,Ciardi Gianluca
Journal of Physical Therapy Science 27(7), 2381-2385, 2015
… [Purpose] The purpose of this review was to critically evaluate the literature concerning the physiotherapy of facioscapulohumeral dystrophy, and to determine an effective protocol for physiotherapy treatments, which can be adapted to patient characteristics. … [Conclusion] At present, there are few studies concerning facioscapulohumeral dystrophy in the literature, and the few that are available rule out the utility of the techniques used. …
NAID 130005089026