Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).
We report clinical and imaging findings in six cases from five families affected by the form of congenital muscular dystrophy with rigid spine linked to the locus rigid spine muscular dystrophy 1 on chromosome 1p35-36. All cases showed rigidity of the spine, predominant neck and trunk weakness and frequent and severe thoracic scoliosis. Respiratory impairment was always observed in the first decade. Muscle imaging showed a marked involvement of adductors, sartorius and biceps femoris while rectus femoris and gracilis were relatively spared. This pattern of selective muscle involvement was consistent in all six cases and could be easily observed on either computerised tomography or magnetic resonance imaging. The results of this study suggest that muscle imaging, in combination with clinical assessment can help to identify the rigid spine muscular dystrophy 1 form of congenital muscular dystrophy and can help to target the appropriate genetic investigations.
Department of Paediatrics, Dubowitz Neuromuscular Centre, Hammersmith Hospital, Imperial College, Du Cane Road, W12 OHN, London, UK. e.mercuri@ic.ac.uk
Eugenio
E
Mercuri
Beril
B
Talim
Behzad
B
Moghadaszadeh
Nathalie
N
Petit
Martin
M
Brockington
Serena
S
Counsell
Pascale
P
Guicheney
Francesco
F
Muntoni
Luciano
L
Merlini
D000293:Adolescent; D000328:Adult; D002878:Chromosomes, Human, Pair 1; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D018482:Muscle, Skeletal / Q000473:pathology*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology*; D009154:Mutation; D016133:Polymerase Chain Reaction; D012600:Scoliosis; D013131:Spine / Q000002:abnormalities*; D014057:Tomography, X-Ray Computed