Facioscapulohumeral Dystrophy

Liew, Wendy; Maarel, S.M. van der; Tawil, Rabi

doi:10.1016/b978-0-12-417044-5.00032-9

Cited by 1 publication

(8 citation statements)

References 83 publications

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“…On the other hand, as many as 30% of FSHD1 cases confirmed by genetic testing may be asymptomatic, especially those with small deletions (8-10 D4Z4 repeats), which delineate the mildest end of the disease severity spectrum [17]. Therefore, it is implied that the fragment size of D4Z4 is roughly negatively correlated with the clinical severity of FSHD [3,8,13,18,19].…”

Section: Genetics and Pathogenesis Of Fshdmentioning

confidence: 99%

“…The onset of FSHD symptoms ranges from birth to 70 years old, and the clinical severity may vary from asymptomatic carriers to patients with extensive muscle wasting, leading to functional dependence and chronic respiratory failure [20]. FSHD is traditionally delineated as muscular dystrophy with slow progression, and the age of onset is variable with a 95% penetrance [3,4]. It usually starts with weakness in the facial, periscapular, and humeral muscle groups, except for the extraocular and deltoid muscles.…”

Section: Clinical Manifestations Of Fshdmentioning

confidence: 99%

“…As the disease progresses or onset at a relatively early age, patients with a severely advanced phenotype may exhibit rare features, such as a poly-hill sign, Beevor's sign, excessive curvature of the lumbar spine (hyperlordosis), Trendelenburg gait as well as drop foot [11,17]. Nevertheless, given that the bulbar, respiratory, and cardiac muscles are relatively unaffected by the disease course, patients with a typical FSHD type usually have a normal life expectancy [3,4,12].…”

Section: Clinical Manifestations Of Fshdmentioning

confidence: 99%

“…In 1884, FSHD was first reported by Landouzy and Dejerine [2], who summarized a novel pattern of weakness affecting the facial (facio), shoulder (scapula), and upper arm (humeral) muscles. In 1952, a study of six generations of a family in Utah further described the clinical presentations of FSHD [3]. According to the diagnostic criteria proposed by the International Facioscapulohumeral Consortium [3,4], FSHD is generally defined by the characteristic, slow progression of initially restricted muscle weakness distribution (Table 1).…”

Section: Introductionmentioning

confidence: 99%

“…In 1952, a study of six generations of a family in Utah further described the clinical presentations of FSHD [3]. According to the diagnostic criteria proposed by the International Facioscapulohumeral Consortium [3,4], FSHD is generally defined by the characteristic, slow progression of initially restricted muscle weakness distribution (Table 1). However, because of the high degree of variability in clinical manifestations and the availability of advanced genetic diagnosis, molecular testing has almost replaced these clinical diagnostic criteria for FSHD [5].…”

Section: Introductionmentioning

confidence: 99%

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Early-Onset Infantile Facioscapulohumeral Muscular Dystrophy: A Timely Review

Chen

Tseng

2020

IJMS

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Facioscapulohumeral muscular dystrophy (FSHD)—the worldwide third most common inherited muscular dystrophy caused by the heterozygous contraction of a 3.3 kb tandem repeat (D4Z4) on a chromosome with a 4q35 haplotype—is a progressive genetic myopathy with variable onset of symptoms, distribution of muscle weakness, and clinical severity. While much is known about the clinical course of adult FSHD, data on the early-onset infantile phenotype, especially on the progression of the disease, are relatively scarce. Contrary to the classical form, patients with infantile FSHD more often have a rapid decline in muscle wasting and systemic features with multiple extramuscular involvements. A rough correlation between the phenotypic severity of FSHD and the D4Z4 repeat size has been reported, and the majority of patients with infantile FSHD obtain a very short D4Z4 repeat length (one to three copies, EcoRI size 10–14 kb), in contrast to the classical, slowly progressive, form of FSHD (15–38 kb). With the increasing identifications of case reports and the advance in genetic diagnostics, recent studies have suggested that the infantile variant of FSHD is not a genetically separate entity but a part of the FSHD spectrum. Nevertheless, many questions about the clinical phenotype and natural history of infantile FSHD remain unanswered, limiting evidence-based clinical management. In this review, we summarize the updated research to gain insight into the clinical spectrum of infantile FSHD and raise views to improve recognition and understanding of its underlying pathomechanism, and further, to advance novel treatments and standard care methods.

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