Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine.
OBJECTIVE
The aim of the study was to evaluate whether the visual analysis of muscle magnetic resonance imaging scans can identify specific patterns of muscle involvement.


METHODS
We assessed scans from 83 patients with muscle disorders characterized by rigidity of the spine secondary to mutations in 4 different genes. The conditions studied were rigid spine syndrome (SEPN1 defects), Bethlem myopathy, and Ullrich congenital muscular dystrophy, allelic disorders caused by Col6A1, Col6A2, and Col6A3 mutations, the autosomal dominant form of Emery-Dreifuss muscular dystrophy (LMNA defects) and calpain-deficient limb girdle muscular dystrophy (CAPN3 defects). The scans of 25 patients affected by other myopathies were also reviewed as a control group. The scans were compared with the previously described patterns.


RESULTS
In 82% of the scans in the study group (68/83) the patterns were classified as "typical" of 1 of the 5 forms studied, and in 7 (8%) were consistent with 1 of the reported patterns but not entirely typical. With one exception, the patterns identified were always consistent with the appropriate genetic diagnosis. The remaining scans (9%) had only minimal changes and were uninformative. None of the scans of the 25 patients in the control group had patterns that could be classified as typical of the 5 forms examined. The sensitivity to detect selective patterns in relation to the genetic diagnosis was 0.9.


CONCLUSIONS
These findings suggest that muscle magnetic resonance imaging could be used in clinical practice as an additional tool in the differential diagnosis of muscle disorders with prominent spinal rigidity.
Dubowitz Neuromuscular Centre, Institute of Child Health, London, United Kingdom. mercuri@rm.unicatt.it
Eugenio
E
Mercuri
Emma
E
Clements
Amaka
A
Offiah
Anna
A
Pichiecchio
Gessica
G
Vasco
Flaviana
F
Bianco
Angela
A
Berardinelli
Adnan
A
Manzur
Marika
M
Pane
Sonia
S
Messina
Francesca
F
Gualandi
Enzo
E
Ricci
Mary
M
Rutherford
Francesco
F
Muntoni
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D024161:Collagen Type XI / Q000235:genetics; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology*; D009136:Muscular Dystrophies / Q000145:classification / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D051140:Selenoproteins / Q000235:genetics; D012680:Sensitivity and Specificity; D013122:Spinal Diseases / Q000209:etiology* / Q000473:pathology*; D055815:Young Adult
D024161:Collagen Type XI; D009124:Muscle Proteins; C435489:SELENON protein, human; D051140:Selenoproteins