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Natural history of Ullrich congenital muscular dystrophy

From the Dubowitz Neuromuscular Centre (A.N., M.K., M.M., C.J.-M., A.A., E.C., A.Y.M., S.A.R., E.M., F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Pediatrics (M.K.), Hammersmith Hospital, Imperial College London, UK; Department of Statistical Advisory Service (B.N.), Imperial College, London, UK; and Pediatric Neurology Unit (E.M.), Catholic University, Rome, Italy.

Address correspondence and reprint requests to Dr. Francesco Muntoni, Dubowitz Neuromuscular Centre, UCL Institute of Child Health, 30 Guilford St. London, WC1N 1EH, UK f.muntoni{at}ich.ucl.ac.uk

Objective: To describe the course, complications, and prognosis of Ullrich congenital muscular dystrophy (UCMD), with special reference to life-changing events, including loss of ambulation, respiratory insufficiency, and death.

Methods: Review of the case notes of 13 patients with UCMD, aged 15 years or older at last visit, followed up at a tertiary neuromuscular centre, London, UK, from 1977 to 2007. Data collected were age at onset of symptoms, presenting symptoms, mobility, contractures, scoliosis, skin abnormalities, respiratory function, and feeding difficulties.

Results: The mean age at onset of symptoms was 12 months (SD 14 months). Eight patients (61.5%) acquired independent ambulation at a mean age of 1.7 years (SD 0.8 years). Nine patients (69.2%) became constant wheelchair users at a mean age of 11.1 years (SD 4.8 years). Three patients continued to ambulate indoors with assistance. Forced vital capacity (FVC) values were abnormal in all patients from age 6 years. The mean FVC (% predicted) declined at a mean rate of 2.6% (SD 4.1%) yearly. Nine patients (69.2%) started noninvasive ventilation at a mean age of 14.3 years (SD 5.0 years). Two patients died of respiratory insufficiency.

Conclusion: In Ullrich congenital muscular dystrophy (UCMD), the decline in motor and respiratory functions is more rapid in the first decade of life. The deterioration is invariable, but not always correlated with age or severity at presentation. This information should be of help to better anticipate the difficulties encountered by patients with UCMD and in planning future therapeutic trials in this condition.

Abbreviations: C = contractures; CD = chewing difficulties; CHD = congenital hip dislocation; CK = creatine kinase; CMD = congenital muscular dystrophy; DMD = Duchenne muscular dystrophy; DMM = delayed motor milestones; FD = feeding difficulties; FH = follicular hyperkeratosis; FVC = forced vital capacity; H = hypotonia; HS = hamstrings; K = kyphosis; Ke = keloid; LFF = long finger flexors; LW = low weight; MAS = motor ability scale; NA = not available; NIV = noninvasive ventilation; PTP = permeability transition pore; PW = proximal weakness; R = rigid spine; S = scoliosis; SD = swallowing difficulties; T = torticollis; TA = Achilles tendon; TG = tiptoe gait; UCMD = Ullrich congenital muscular dystrophy.

Disclosure: Author disclosures are provided at the end of the article.

Received November 9, 2008. Accepted in final form April 1, 2009.