Abstract
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.
Highlights
Facioscapulohumeral muscular dystrophy (FSHD; MIM158900) accounts for one in 15,000–20,000 normal individuals worldwide and is the third most common form of muscular dystrophy after Duchenne and myotonic muscular dystrophy [1]
As infantile cases are known to have a much faster disease progression, this unique pattern of muscular involvement may represent a “time-lapse picture” for classical FSHD with a slower disease course [10,16]. We suggest that this peculiar imaging finding of lower extremities in an FSHD patient may indicate a rapid motor function decline
Serum creatine kinase (CK) in symptomatic FSHD patients may rise to five times the upper limit of normal
Summary
Facioscapulohumeral muscular dystrophy (FSHD; MIM158900) accounts for one in 15,000–20,000 normal individuals worldwide and is the third most common form of muscular dystrophy after Duchenne and myotonic muscular dystrophy [1]. 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). 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]
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