title: Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy.
abstract: Two sisters and a first cousin presented with rigid spine and facio-scapulo-peroneal muscle atrophy. The patients belonged to a family with two first-cousin marriages. Electromyography, muscle and nerve biopsy showed neurogenic muscle atrophy without peripheral nerve involvement. Follow up did not show progression of the disease. This is the first observation of an association of neurogenic facio-scapulo-peroneal and rigid spine syndrome. The double first-cousin marriage suggests autosomal recessive inheritance.
authors.affiliation: Paolo Peirolo Centre for Neuromuscular Diseases, Clinica Neurologica II, Università di Torino, Turin, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Palmucci
authors.forename: T
authors.initials: T
authors.lastname: Mongini
authors.forename: C
authors.initials: C
authors.lastname: Doriguzzi
authors.forename: M
authors.initials: M
authors.lastname: Maniscalco
authors.forename: D
authors.initials: D
authors.lastname: Schiffer
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D003238:Connective Tissue / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008297:Male; D009127:Muscle Rigidity / Q000235:genetics* / Q000473:pathology; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013577:Syndrome