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Bent spine syndrome in facioscapulohumeral muscular dystrophy

We read with great interest the article by Kottlors et al., who reported bent spine syndrome as the only manifestation of facioscapulohumeral muscular dystrophy (FSHD). Although FSHD has been suggested as a possible underlying disease in patients with bent spine syndrome, theirs is the first report of isolated involvement of paraspinal muscles in FSHD. They concluded that genetic analysis might be performed in selected cases with bent spine syndrome to rule out or confirm underlying FSHD. In accordance with the aforementioned case, we report the case of a female FSHD patient who developed severe camptocormia 10 years after diagnosis. The patient, who had a positive family history of FSHD (with no camptocormia in any of her affected relatives), presented at the age of 46 years with difficulty in climbing stairs. The physical examination disclosed lumbar lordosis and moderate weakness of neck extensor and proximal lower extremity muscles. Genetic testing revealed restriction fragments at 4q35 with repeat contraction of 31 kb with EcoI and of 28 kb with EcoI/Bln, confirming FSHD. In the absence of an alternative explanation after an extensive work-up, her bent spine syndrome was considered to be a rare phenotypic feature of FSHD. Axial weakness and bent spine syndrome have been reported in patients with the D4Z4 deletion on chromosome 4q35 as an early manifestation in the course of the disease and all patients had suffered from proximal limb and facial weakness. In our patient, camptocormia was a late feature that presented 10 years after the initial diagnosis. In contrast, in the case of Kottlors et al., camptocormia seemed to be the initial and sole manifestation of the disease. Because the patient’s mother had a similar posture, it would be of interest to know whether she had additional clinical features of FSHD, such as steppage gait, facial asymmetry, or scapular winging. Another question to be answered is whether their patient will eventually develop involvement of other muscle groups over time or will have a disease restricted to the paraspinal muscles, thus extending the spectrum of FSHD and the differential diagnosis of isolated bent spine syndrome. In conclusion, camptocormia may be variably manifested even among members of the same family, as evident from our patient with a positive FSHD family history but without bent spine syndrome in any of the many other affected family members. Moreover, it will be of great interest to determine the frequency of bent spine syndrome as an early manifestation accompanying the classical phenotype of the disease or, as in the case of our patient, as a symptom manifesting late in the course of FSHD. Finally, we agree that molecular analysis for FSHD should be considered in carefully selected cases of bent spine syndrome, especially in those patients with concomitant clinical manifestations suggestive of the disease or those with a positive family history.