New PDF release: Facioscapulohumeral Muscular Dystrophy (FSHD): Clinical

By David N. Cooper

ISBN-10: 1859962440

ISBN-13: 9781859962442

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic affliction regarding slowly revolutionary muscle degeneration within which the muscle groups of the face, shoulder blades and top palms are one of the so much critically affected. it's the 3rd most typical inherited muscular dystrophy, affecting 1 in 20,000. the quest for the molecular foundation of the illness is of curiosity to all genetic researchers, concerning a deletion outdoor a coding area leading to over-expression of adjoining genes. This quantity summarizes the present figuring out of the affliction, together with medical, molecular and healing points.

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Extra resources for Facioscapulohumeral Muscular Dystrophy (FSHD): Clinical Medicine and Molecular Cell Biology

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This man had a severe facioscapulohumeral syndrome but complete sparing of the central, spinal and peripheral nervous systems. This unfortunate young man, therefore, almost certainly represents the first description of FSHD in the medical literature. Duchenne included in the differential diagnosis of pseudo-hypertrophie myo-sclerosique a clear description of an FSH syndrome. While Duchenne was concentrating on pseudohypertrophy, two other French physicians, Landouzy and Déjérine, had been following another family.

5 Hearing impairment The association between hearing impairment and FSHD was first described by Small in 1968. , 1982). In infantile FSHD, speech and communication difficulties, caused by severe facial weakness, may be further compromised by significant hearing impairment. The major psychological, communication and learning problems consequent to this, and the delay in diagnosis, are well described by Meyerson and Lewis (1984). Most hearing problems were initially described in infantile cases, many of whom were also sporadic cases.

1992a, 1992b). The p13E-11 shortened fragments were shown by van Deutekom et al. 2 kb tandem repeat array, D4Z4. , 1995a). , 1995b). 1 Distribution of affected muscles There are three particularly characteristic features about the distribution of muscle involvement in FSHD: firstly the early involvement of the face; secondly, the involvement of the upper limb girdle before the lower; and thirdly, the at-times striking asymmetry of muscle involvement. Facial involvement From the very first descriptions by Landouzy (1874) and Landouzy and Déjérine (1885), it was clear that FSHD was a ‘progressive muscular atrophy that starts in childhood with the face’ producing a ‘facies particulier’, which was apparent from 3 years of age in their patient.

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Facioscapulohumeral Muscular Dystrophy (FSHD): Clinical Medicine and Molecular Cell Biology by David N. Cooper


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