Congenital cervical spinal muscular atrophy: a non-familial, non progressive condition of the upper limbs.
Two patients with congenital cervical spinal muscular atrophy had symmetrical severe muscle weakness and wasting confined to the upper limbs, areflexia and congenital contractures. The shoulders were internally rotated, elbows extended and wrists flexed. There were no sensory or bulbar symptoms, scoliosis, long tract signs or lower limb involvement. This condition should be regarded as a neurogenic type of arthrogryposis, limited to the upper limbs.
Hageman
G
G
Department of Neurology, Medical Spectrum Twente Hospital Enschede, The Netherlands.
Ramaekers
V T
VT
Hilhorst
B G
BG
Rozeboom
A R
AR
D000328:Adult; D001176:Arthrogryposis / Q000175:diagnosis / Q000235:genetics; D001706:Biopsy; D003937:Diagnosis, Differential; D005260:Female; D007839:Functional Laterality / Q000502:physiology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009132:Muscles / Q000294:innervation; D009460:Neurologic Examination; D011826:Radial Nerve / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics