Facio-scapulo-humeral muscular dystrophy (FSHD) is an autosomal-dominant, inherited disorder, characterized by early involvement of facial and scapular muscles with eventual spreading to pelvic and lower limb muscles, where the foot extensors are often those affected more severely. However, there is high degree of clinical variability with respect to age at onset, severity and pattern of muscle involvement, both between and within families. For this reason diagnosis of FSHD can be difficult sometimes and molecular diagnosis is then necessary. A clinical and molecular genetics-based epidemiological investigation was carried out in 1999 in the territory of North-West Tuscany, central Italy, to calculate the prevalence rate of FSHD. The molecular diagnosis was based on the detection of large deletions of variable size of kpnl repeat units on chromosome 4q35. Results have been compared to those of a previous study conducted in the same area in 1981, in the pre-molecular era. We found a prevalence of 3.16 × 10-5 inhabitants, a value two times higher than found in our previous study. This result confirms the usefulness of routine adoption of the molecular genetics-based screening to be extensively applied to make diagnosis of FSHD.
Facio-scapulo-humeral muscular dystrophy in North-West Tuscany: A clinically and molecularly based epidemiological study
PASQUALI, LIVIA;MANCA, MARIA LAURA;SICILIANO, GABRIELE
2000-01-01
Abstract
Facio-scapulo-humeral muscular dystrophy (FSHD) is an autosomal-dominant, inherited disorder, characterized by early involvement of facial and scapular muscles with eventual spreading to pelvic and lower limb muscles, where the foot extensors are often those affected more severely. However, there is high degree of clinical variability with respect to age at onset, severity and pattern of muscle involvement, both between and within families. For this reason diagnosis of FSHD can be difficult sometimes and molecular diagnosis is then necessary. A clinical and molecular genetics-based epidemiological investigation was carried out in 1999 in the territory of North-West Tuscany, central Italy, to calculate the prevalence rate of FSHD. The molecular diagnosis was based on the detection of large deletions of variable size of kpnl repeat units on chromosome 4q35. Results have been compared to those of a previous study conducted in the same area in 1981, in the pre-molecular era. We found a prevalence of 3.16 × 10-5 inhabitants, a value two times higher than found in our previous study. This result confirms the usefulness of routine adoption of the molecular genetics-based screening to be extensively applied to make diagnosis of FSHD.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
