Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)
E Mercuri, B Talim, B Moghadaszadeh, N Petit… - Neuromuscular …, 2002 - Elsevier
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 …
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 …