Literature DB >> 1249100

Spinal deformity associated with heritable neurological conditions: spinal muscular atrophy, Friedreich's ataxia, familial dysautonomia, and Charcot-Marie-Tooth disease.

R N Hensinger, G D MacEwen.   

Abstract

Children with progressive neurological conditions such as spinal muscular atrophy, Friedreich's ataxia, familial dysautonomia (Riley-Day syndrome), and Charcot-Marie-Tooth disease have a significant risk of acquiring a serious spinal deformity. As with paralytic scoliosis following poliomyelitis, the curves are difficult to control with bracing, and progression does not cease with maturation. An increasing spinal curvature may lead to loss of ambulation or, for the wheelchair-bound patient, loss of sitting balance. The curvature may further compromise pulmonary function that may already be compromised by the neurological deficit. Twenty patients are reported with an average follow-up of six years (range, one to fourteen years). For the properly selected patient, surgical stabilization of the spine arrested the progress of the curve and improved function. Complications were few; however, pseudarthrosis was more common than in patients with non-neurological problems.

Entities:  

Mesh:

Year:  1976        PMID: 1249100

Source DB:  PubMed          Journal:  J Bone Joint Surg Am        ISSN: 0021-9355            Impact factor:   5.284


  7 in total

Review 1.  Neurology and orthopaedics.

Authors:  Henry Houlden; Paul Charlton; Dishan Singh
Journal:  J Neurol Neurosurg Psychiatry       Date:  2007-03       Impact factor: 10.154

Review 2.  Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.

Authors:  Mikhail Kazachkov; Jose-Alberto Palma; Lucy Norcliffe-Kaufmann; Bat-El Bar-Aluma; Christy L Spalink; Erin P Barnes; Nancy E Amoroso; Stamatela M Balou; Shay Bess; Arun Chopra; Rany Condos; Ori Efrati; Kathryn Fitzgerald; David Fridman; Ronald M Goldenberg; Ayelet Goldhaber; David A Kaufman; Sanjeev V Kothare; Jeremiah Levine; Joseph Levy; Anthony S Lubinsky; Channa Maayan; Libia C Moy; Pedro J Rivera; Alcibiades J Rodriguez; Gil Sokol; Mark F Sloane; Tina Tan; Horacio Kaufmann
Journal:  Respir Med       Date:  2018-06-21       Impact factor: 3.415

3.  Rate of complications due to neuromuscular scoliosis spine surgery in a 30-years consecutive series.

Authors:  Francesco Turturro; Antonello Montanaro; Cosma Calderaro; Luca Labianca; Vincenzo Di Sanzo; Andrea Ferretti
Journal:  Eur Spine J       Date:  2017-03-17       Impact factor: 3.134

4.  ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.

Authors:  Elisabetta Morini; Dadi Gao; Connor M Montgomery; Monica Salani; Chiara Mazzasette; Tobias A Krussig; Brooke Swain; Paula Dietrich; Jana Narasimhan; Vijayalakshmi Gabbeta; Amal Dakka; Jean Hedrick; Xin Zhao; Marla Weetall; Nikolai A Naryshkin; Gregory G Wojtkiewicz; Chien-Ping Ko; Michael E Talkowski; Ioannis Dragatsis; Susan A Slaugenhaupt
Journal:  Am J Hum Genet       Date:  2019-03-21       Impact factor: 11.025

Review 5.  Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease.

Authors:  Loutfi S Aboussouan; Richard A Lewis; Michael E Shy
Journal:  Lung       Date:  2007-02-09       Impact factor: 2.584

6.  SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis.

Authors:  Stavros Bashiardes; Rose Veile; Missy Allen; Carol A Wise; Mathew Dobbs; Jose A Morcuende; Lazlos Szappanos; John A Herring; Anne M Bowcock; Michael Lovett
Journal:  Hum Genet       Date:  2004-04-16       Impact factor: 4.132

7.  Multiple respiratory complications in a patient with Charcot-Marie-Tooth disease with MFN2 mutation.

Authors:  Tomoya Sano; Jun Miyata; Akira Matsukida; Chie Watanabe; Ryohei Suematsu; Yoichi Tagami; Yoshifumi Kimizuka; Yuji Fujikura; Akihiko Kawana
Journal:  Respir Med Case Rep       Date:  2022-02-17
  7 in total

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