Duchenne muscular dystrophy (DMD) is the most common inherited muscle dystrophy. Patients
are characterized by muscle weakness, gross motor delay, and elevated serum creatinine
kinase (CK) levels. The disease is caused by mutations in the DMD gene located on
the X chromosome. Due to the X-linked recessive inheritance pattern, DMD most commonly
affects males, who are generally diagnosed between the age of 3–5 years. Here we present
an ultra-rare manifestation of DMD in a female patient. Cytogenetic examination showed
that she has a t(X;10)(p21.1;p12.1) translocation, which turned out to affect the
DMD gene with one of the breakpoints located in exon 54 (detected by genome sequencing).
The X-inactivation test revealed skewed X-inactivation (ratio 99:1). Muscle histology
and dystrophin immunohistochemistry showed severe dystrophic changes and highly reduced
dystrophin expression, respectively. These results, in accordance with the clinical
picture and a highly elevated serum CK, led to the diagnosis of DMD. In conclusion,
although in very rare cases, DMD can manifest in female patients as well. In this
case, a balanced X-autosome reciprocal translocation disrupts the DMD gene and skewed
X-inactivation leads to the manifestation of the DMD phenotype.
