Facioscapulohumeral dystrophy presenting as infantile facial diplegia and late‐onset limb‐girdle myopathy in members of the same family

Abstract

We report a family with markedly variable myopathic weakness due to facioscapulohumeral muscular dystrophy (FSHD). The proband developed mild late-onset proximal limb weakness. Her two daughters had severe infantile facial diplegia, initially diagnosed as Möbius syndrome, and mild childhood-onset limb weakness and scapular winging. Results of facial muscle electromyography and muscle histopathology supported a myopathic disorder. This case study further highlights the broad clinical spectrum and intrafamily variability in FSHD, and the occasional absence of a positive correlation between fragment size and disease onset. Moreover, this study underscores the importance of considering FSHD in cases of infantile facial diplegia, especially in patients not demonstrating the full clinical features of Möbius syndrome. In difficult cases, facial muscle electromyography may help to differentiate myopathic from neuropathic weakness, and help guide further diagnostic studies.

Atypical facet of Möbius syndrome: Association with facioscapulohumeral muscular dystrophy

“…9 Furthermore, our patient exhibited generalized facial diplegia, which differs from the pattern of relative sparing of lower facial muscles characteristic of Mö-bius syndrome. 12 Although cases of congenital facial diplegia with early onset shoulder-girdle weakness have been reported in conjunction with the FSHD phenotype and 4q35 deletion, 2,5 it is generally accepted that FSHD spares the extraocular muscles. 10 Unlike some patients with FSHD, there was no evidence of sensorineural deafness or Coat's syndrome (bilateral retinal exudative telangiectasia).…”

“…6,10 This includes five children originally diagnosed with Möbius syndrome or congenital facial diplegia (albeit with normal extraocular movements) who were later clinically and molecularly confirmed to have FSHD. 2,5 FSHD is caused by a contraction of the macrosatellite repeat D4Z4 on chromosome 4qter. The D4Z4 repeat can also be found on chromosome 10qter and on two equally common chromosome 4qter variants (4qA and 4qB), but only D4Z4 contractions on chromosome 4qA cause the disease.…”

Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population

“…22 Therefore, the extension of the clinical spectrum of FSHD needs to be carefully evaluated. Although some rare cases with 'double trouble' had been reported, 11,23 NotI digestions followed by hybridizations with B31 need to conclusively identify the correct chromosome 4, and some complex genetic constitutions with exchanged D4Z4 alleles of chromosome 4 and chromosome 10 origins are presented below.…”

MRI of Lower Limb Muscle in Patients with 4q35-linked Facio-Scapulo-Limb, Type 2 (the Same as a Facioscapuloperoneal or a FSHD1) Autosomal Dominant Muscular Dystrophy

“…As well, the significant correlation between MRC scores and degree of MRI involvement of the tibialis anterior muscles was revealed in 7 FSHD patients by Kan et al [14]. In last decade there are many articles in which was not found the significant correlation between DNA fragment size and phenotype, age of onset and the severity of the disease [19][20][21][22][23][24][25]. On Padberg's opinion "… since age of onset and severity of the disease roughly relates to the size of the deletion…" [26].…”