title: Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement.
abstract: Facioscapulohumeral muscular dystrophy has a distinctive regional distribution but variable clinical expression and may be markedly asymmetrical. We report two patients presenting weakness and wasting confined to a single lower limb. Creatine kinase was slightly increased, electromyogram and muscle biopsy were myopathic. Muscle computed tomography showed normal shoulder, mid-arm, pelvic and mid-thigh scans but involvement of calf muscles. In both cases, weakness of facial and periscapular muscles was found in other family members unaware of the disease. Molecular analysis showed 4q35 deletion in one family. These cases broaden the presentation of facioscapulohumeral muscular dystrophy to include isolated monomelic atrophy of lower limb with calf muscle involvement.
authors.affiliation: Centre for Neuromuscular Disease, University "G. d'Annunzio,", Chieti, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Uncini
authors.forename: G
authors.initials: G
authors.lastname: Galluzzi
authors.forename: A
authors.initials: A
authors.lastname: Di Muzio
authors.forename: M V
authors.initials: MV
authors.lastname: De Angelis
authors.forename: E
authors.initials: E
authors.lastname: Ricci
authors.forename: C
authors.initials: C
authors.lastname: Scoppetta
authors.forename: S
authors.initials: S
authors.lastname: Servidei
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002894:Chromosomes, Human, Pair 4; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D004576:Electromyography; D005260:Female; D006801:Humans; D007866:Leg; D008297:Male; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D009460:Neurologic Examination; D011859:Radiography; D012782:Shoulder; D015898:Tomography Scanners, X-Ray Computed
chemical_list: D003402:Creatine Kinase