Journal of Neurology

, Volume 258, Issue 5, pp 866–873 | Cite as

Camptocormia phenotype of FSHD: a clinical and MRI study on six patients

  • Berit Jordan
  • Katharina Eger
  • Sabrina Koesling
  • Stephan Zierz
Original Communications

Abstract

Recently it has been postulated that there is an atypical facioscapulohumeral muscular dystrophy (FSHD) phenotype with isolated axial myopathy. Involvement of paraspinal and limb muscles was evaluated in six patients with molecularly proven FSHD and a predominant bent spine phenotype. Consistent with the camptocormia phenotype, the most severely affected muscles in all six patients were the thoracic and lumbar spinal tract together with hamstrings. MRI disclosed severe axial muscle degeneration but mostly subclinical involvement of limb muscles. The involvement of hip extensor muscles in FSHD might considerably contribute to the clinical phenotype of camptocormia due to axial muscle involvement.

Keywords

FSHD Camptocormia Muscle MRI Bent spine Axial myopathy 

Notes

Conflict of interest

The authors declare that they have no conflict of interest.

References

  1. 1.
    Azher SN, Jankovic J (2005) Camptocormia: pathogenesis, classification, and response to therapy. Neurology 65:355–359PubMedCrossRefGoogle Scholar
  2. 2.
    Bierry G, Kremer S, Kellner F, Abu Eid M, Bogorin A, Dietemann JL (2008) Disorders of paravertebral lumbar muscles: from pathology to cross-sectional imaging. Skeletal Radiol 37:967–977PubMedCrossRefGoogle Scholar
  3. 3.
    Deidda G, Cacurri S, Piazzo N, Felicetti L (1996) Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J Med Genet 33:361–365PubMedCrossRefGoogle Scholar
  4. 4.
    Eger K, Jordan B, Habermann S, Zierz S (2010) Beevor’s sign in facioscapulohumeral muscular dystrophy: an old sign with new implications. J Neurol 257:436–438PubMedCrossRefGoogle Scholar
  5. 5.
    Felice KJ, Moore SA (2001) Unusual clinical presentations in patients harboring the facioscapulohumeral dystrophy 4q35 deletion. Muscle Nerve 24:352–356PubMedCrossRefGoogle Scholar
  6. 6.
    Felice KJ, North WA, Moore SA, Mathews KD (2000) FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy. Neurology 54:1927–1931PubMedGoogle Scholar
  7. 7.
    Fischer D, Walter MC, Kesper K, Petersen JA, Aurino S, Nigro V, Kubisch C, Meindl T, Lochmuller H, Wilhelm K, Urbach H, Schroder R (2005) Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol 252:538–547PubMedCrossRefGoogle Scholar
  8. 8.
    Friedman Y, Paul JT, Turley J, Hazrati LN, Munoz D (2007) Axial myopathy due to primary amyloidosis. Muscle Nerve 36:542–546PubMedCrossRefGoogle Scholar
  9. 9.
    Hadar H, Gadoth N, Heifetz M (1983) Fatty replacement of lower paraspinal muscles: normal and neuromuscular disorders. AJR Am J Roentgenol 141:895–898PubMedGoogle Scholar
  10. 10.
    Hides JA, Belavy DL, Stanton W, Wilson SJ, Rittweger J, Felsenberg D, Richardson CA (2007) Magnetic resonance imaging assessment of trunk muscles during prolonged bed rest. Spine 32:1687–1692PubMedCrossRefGoogle Scholar
  11. 11.
    Horlings CG, Munneke M, Bickerstaffe A, Laverman L, Allum JH, Padberg GW, Bloem BR, van Engelen BG (2009) Epidemiology and pathophysiology of falls in facioscapulohumeral disease. J Neurol Neurosurg Psychiatry 80:1357–1363PubMedCrossRefGoogle Scholar
  12. 12.
    Hund E, Heckl R, Goebel HH, Meinck HM (1995) Inclusion body myositis presenting with isolated erector spinae paresis. Neurology 45:993–994PubMedGoogle Scholar
  13. 13.
    Iosa M, Mazza C, Pecoraro F, Aprile I, Ricci E, Cappozzo A (2010) Control of the upper body movements during level walking in patients with facioscapulohumeral dystrophy. Gait Posture 31:68–72PubMedCrossRefGoogle Scholar
  14. 14.
    Jardine PE, Koch MC, Lunt PW, Maynard J, Bathke KD, Harper PS, Upadhyaya M (1994) De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E–11 (D4F104S1). Arch Dis Child 71:221–227PubMedCrossRefGoogle Scholar
  15. 15.
    Jungbluth H, Lillis S, Zhou H, Abbs S, Sewry C, Swash M, Muntoni F (2009) Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 19:344–347PubMedCrossRefGoogle Scholar
  16. 16.
    Kan HE, Scheenen TW, Wohlgemuth M, Klomp DW, van Loosbroek-Wagenmans I, Padberg GW, Heerschap A (2009) Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy. Neuromuscul Disord 19:357–362PubMedCrossRefGoogle Scholar
  17. 17.
    Katirji B, Kesner V, Hejal RB, Alshekhlee A (2008) Teaching NeuroImage: axial muscle atrophy in adult-onset Pompe disease. Neurology 70:e36PubMedCrossRefGoogle Scholar
  18. 18.
    Kornblum C, Lutterbey G, Bogdanow M, Kesper K, Schild H, Schroder R, Wattjes MP (2006) Distinct neuromuscular phenotypes in myotonic dystrophy types 1 and 2: a whole body highfield MRI study. J Neurol 253:753–761PubMedCrossRefGoogle Scholar
  19. 19.
    Kottlors M, Kress W, Meng G, Glocker FX (2010) Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome. Muscle Nerve 42:273–275PubMedCrossRefGoogle Scholar
  20. 20.
    Krasnianski M, Eger K, Neudecker S, Jakubiczka S, Zierz S (2003) Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion. Arch Neurol 60:1421–1425PubMedCrossRefGoogle Scholar
  21. 21.
    Kuncl RW, Cornblath DR, Griffin JW (1988) Assessment of thoracic paraspinal muscles in the diagnosis of ALS. Muscle Nerve 11:484–492PubMedCrossRefGoogle Scholar
  22. 22.
    Kuo SH, Vullaganti M, Jimenez-Shahed J, Kwan JY (2009) Camptocormia as a presentation of generalized inflammatory myopathy. Muscle Nerve 40:1059–1063PubMedCrossRefGoogle Scholar
  23. 23.
    Laroche M, Rousseau H, Mazieres B, Bonafe A, Joffre F, Arlet J (1989) Value of X-ray computed tomography in muscular pathology. Personal cases and review of the literature. Rev Rhum Mal Osteoartic 56:433–439PubMedGoogle Scholar
  24. 24.
    Lee CS, Kang SJ, Hwang CJ, Lee SW, Ahn YJ, Kim YT, Lee DH, Lee MY (2009) Early-onset facioscapulohumeral muscular dystrophy—significance of pelvic extensors in sagittal spinal imbalance. J Pediatr Orthop B 17Google Scholar
  25. 25.
    Mahjneh I, Marconi G, Paetau A, Saarinen A, Salmi T, Somer H (2002) Axial myopathy—an unrecognised entity. J Neurol 249:730–734PubMedCrossRefGoogle Scholar
  26. 26.
    Medical Research Council (1976) Aids to the investigation of peripheral nerve injuries. Her Majesty’s Stationary Office, LondonGoogle Scholar
  27. 27.
    Mengiardi B, Schmid MR, Boos N, Pfirrmann CW, Brunner F, Elfering A, Hodler J (2006) Fat content of lumbar paraspinal muscles in patients with chronic low back pain and in asymptomatic volunteers: quantification with MR spectroscopy. Radiology 240:786–792PubMedCrossRefGoogle Scholar
  28. 28.
    Mercuri E, Bushby K, Ricci E, Birchall D, Pane M, Kinali M, Allsop J, Nigro V, Saenz A, Nascimbeni A, Fulizio L, Angelini C, Muntoni F (2005) Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul Disord 15:164–171PubMedCrossRefGoogle Scholar
  29. 29.
    Mercuri E, Pichiecchio A, Allsop J, Messina S, Pane M, Muntoni F (2007) Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging 25:433–440PubMedCrossRefGoogle Scholar
  30. 30.
    Mercuri E, Talim B, Moghadaszadeh B, Petit N, Brockington M, Counsell S, Guicheney P, Muntoni F, Merlini L (2002) Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromuscul Disord 12:631–638PubMedCrossRefGoogle Scholar
  31. 31.
    Olsen DB, Gideon P, Jeppesen TD, Vissing J (2006) Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI. J Neurol 253:1437–1441PubMedCrossRefGoogle Scholar
  32. 32.
    Reilich P, Schramm N, Schoser B, Schneiderat P, Strigl-Pill N, Muller-Hocker J, Kress W, Ferbert A, Rudnik-Schoneborn S, Noth J, Lochmuller H, Weis J, Walter MC (2010) Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy. J Neurol 257:1108–1118PubMedCrossRefGoogle Scholar
  33. 33.
    Schabitz WR, Glatz K, Schuhan C, Sommer C, Berger C, Schwaninger M, Hartmann M, Hilmar Goebel H, Meinck HM (2003) Severe forward flexion of the trunk in Parkinson’s disease: focal myopathy of the paraspinal muscles mimicking camptocormia. Mov Disord 18:408–414PubMedCrossRefGoogle Scholar
  34. 34.
    Schramm N, Born C, Weckbach S, Reilich P, Walter MC, Reiser MF (2008) Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol. Eur Radiol 18:2922–2936PubMedCrossRefGoogle Scholar
  35. 35.
    Seror P, Krahn M, Laforet P, Leturcq F, Maisonobe T (2008) Complete fatty degeneration of lumbar erector spinae muscles caused by a primary dysferlinopathy. Muscle Nerve 37:410–414PubMedCrossRefGoogle Scholar
  36. 36.
    Spuler S, Krug H, Klein C, Medialdea IC, Jakob W, Ebersbach G, Gruber D, Hoffmann KT, Trottenberg T, Kupsch A (2009) Myopathy causing camptocormia in idiopathic Parkinson’s disease: a multidisciplinary approach. Mov Disord 25:552–559Google Scholar
  37. 37.
    Stojkovic T, Hammouda el H, Richard P, de Munain AL, Ruiz-Martinez J, Gonzalez PC, Laforet P, Penisson-Besnier I, Ferrer X, Lacour A, Lacomblez L, Claeys KG, Maurage CA, Fardeau M, Eymard B (2009) Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia. Neuromuscul Disord 19:316–323Google Scholar
  38. 38.
    Tawil R, Figlewicz DA, Griggs RC, Weiffenbach B (1998) Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium. Ann Neurol 43:279–282PubMedCrossRefGoogle Scholar
  39. 39.
    Tawil R, Van Der Maarel SM (2006) Facioscapulohumeral muscular dystrophy. Muscle Nerve 34:1–15PubMedCrossRefGoogle Scholar
  40. 40.
    Tyler FH, Stephens FE (1950) Studies in disorders of muscle. II Clinical manifestations and inheritance of facioscapulohumeral dystrophy in a large family. Ann Intern Med 32:640–660PubMedGoogle Scholar
  41. 41.
    Umapathi T, Chaudhry V, Cornblath D, Drachman D, Griffin J, Kuncl R (2002) Head drop and camptocormia. J Neurol Neurosurg Psychiatr 73:1–7PubMedCrossRefGoogle Scholar
  42. 42.
    Uncini A, Galluzzi G, Di Muzio A, De Angelis MV, Ricci E, Scoppetta C, Servidei S (2002) Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement. Neuromuscul Disord 12:874–877PubMedCrossRefGoogle Scholar
  43. 43.
    Upadhyaya M, Cooper DN (2002) Molecular diagnosis of facioscapulohumeral muscular dystrophy. Expert Rev Mol Diagn 2:160–171PubMedCrossRefGoogle Scholar
  44. 44.
    van der Kooi AJ, Visser MC, Rosenberg N, van den Berg-Vos R, Wokke JH, Bakker E, de Visser M (2000) Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases. J Neurol Neurosurg Psychiatr 69:114–116PubMedCrossRefGoogle Scholar
  45. 45.
    Wallgren-Pettersson C, Laing N (1996) 40th ENMC Sponsored International Workshop: Nemaline Myopathy. 2–4 February 1996, Naarden, The Netherlands. Neuromuscul Disord 6:389–391PubMedCrossRefGoogle Scholar
  46. 46.
    Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Loscher WN, Wagner K, Lochmuller H, Vincent JB, Quasthoff S (2008) An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet 82:88–99PubMedCrossRefGoogle Scholar
  47. 47.
    Wood-Allum C, Brennan P, Hewitt M, Lowe J, Tyfield L, Wills A (2004) Clinical and histopathological heterogeneity in patients with 4q35 facioscapulohumeral muscular dystrophy (FSHD). Neuropathol Appl Neurobiol 30:188–191PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Berit Jordan
    • 1
  • Katharina Eger
    • 1
  • Sabrina Koesling
    • 2
  • Stephan Zierz
    • 1
  1. 1.Department of NeurologyMartin-Luther University Halle-WittenbergHalle/SaaleGermany
  2. 2.Department of Radiology/NeuroradiologyMartin-Luther-University of Halle-WittenbergHalle/SaaleGermany

Personalised recommendations