Magnetic resonance imaging of muscle in nemaline myopathy.
We report muscle MRI findings of 10 patients from 8 families with nemaline myopathy. Patients with involvement of the nebulin (NEB) gene showed a consistent pattern of selective muscle involvement corresponding to clinical severity. In mild cases, there was complete sparing of thigh muscles and selective involvement of tibialis anterior and soleus. In moderate cases, there was predominant involvement of rectus femoris, vastus lateralis and hamstring muscles and diffuse involvement of anterior compartment and soleus. Patients with nemaline myopathy secondary to mutations in the skeletal muscle alpha-actin (ACTA1) gene showed diffuse involvement of thigh and leg muscles with relative sparing of the gastrocnemii. Selective muscle involvement in both genetic categories was distinct from what has been reported in other congenital myopathies. We conclude that muscle MRI may be applied to distinguish nemaline myopathy from other conditions with similar clinical and histopathological features, to supplement clinical assessment in individual patients and to help direct genetic testing.
Jungbluth
Heinz
H
Department of Paediatric Neurology, Guy's Hospital, London, UK. h.jungbluth@imperial.ac.uk
Sewry
Caroline A
CA
Counsell
Serena
S
Allsop
Joanna
J
Chattopadhyay
Arijit
A
Mercuri
Eugenio
E
North
Kathryn
K
Laing
Nigel
N
Bydder
Graeme
G
Pelin
Katarina
K
Wallgren-Pettersson
Carina
C
Muntoni
Francesco
F
D000199:Actins / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007866:Leg / Q000473:pathology* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D017696:Myopathies, Nemaline / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D010641:Phenotype; D011237:Predictive Value of Tests
D000199:Actins; D009124:Muscle Proteins; C035620:nebulin