scapuloperoneal syndrome

肩甲腓骨型筋症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

1. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

UpToDate Contents

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• 1. シャルコーマリートゥース病などの一次性の遺伝性運動感覚性ニューロパチー hereditary primary motor sensory neuropathies including charcot marie tooth disease
• 2. エメリー‐ドレフェス型筋ジストロフィー emery dreifuss muscular dystrophy
• 3. 筋力低下患者へのアプローチ approach to the patient with muscle weakness
• 4. 顔面肩甲上腕筋ジストロフィー facioscapulohumeral muscular dystrophy

English Journal

• Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene.

• Vill K1, Kuhn M2, Gläser D2, Walter MC3, Müller-Felber W1.
• Neuropediatrics.Neuropediatrics.2015 Jun 25. [Epub ahead of print]
• Mutations in the TRPV4 gene, encoding a polymodal Ca2+ permeable channel, are causative for several human diseases, affecting the skeletal and the peripheral nervous system with highly variable phenotypes. We report on a family with two affected individuals. The father clinically suffered from a cla
• PMID 26110311

• Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation.

• Koutsis G1, Lynch D, Manone A, Karadima G, Reilly MM, Houlden H, Panas M.
• Journal of neurology.J Neurol.2015 Jun 6. [Epub ahead of print]
• PMID 26048687

• Fhl1 W122S causes loss of protein function and late-onset mild myopathy.

• Emmanuele V1, Kubota A2, Garcia-Diaz B2, Garone C2, Akman HO2, Sánchez-Gutiérrez D3, Escudero LM3, Kariya S4, Homma S5, Tanji K6, Quinzii CM2, Hirano M7.
• Human molecular genetics.Hum Mol Genet.2015 Feb 1;24(3):714-26. doi: 10.1093/hmg/ddu490. Epub 2014 Sep 30.
• A member of the four-and-a-half-LIM (FHL) domain protein family, FHL1, is highly expressed in human adult skeletal and cardiac muscle. Mutations in FHL1 have been associated with diverse X-linked muscle diseases: scapuloperoneal (SP) myopathy, reducing body myopathy, X-linked myopathy with postural
• PMID 25274776

Japanese Journal

• Facioscapulohumeral disease and the scapuloperoneal syndrome

• MUNSAT TL.
• Myology, Basic and Clinical Chapt. 44, 1220-1232, 1994
• NAID 10009602745

• Scapuloperoneal Syndromeの筋萎縮症例

• 長谷 方夫 [他]
• 内科 20(7), 1353-1357, 1967-12
• NAID 40018171503

Related Links

• Scapuloperoneal Syndrome Symptoms, Diagnosis, Treatments and ...

1 Feb 2012 ... Scapuloperoneal Syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.

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scapuloperoneal syndrome

「syndrome」

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• 症候群