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. 1972 Apr;35(2):208–215. doi: 10.1136/jnnp.35.2.208

X-linked scapuloperoneal syndrome

P K Thomas 1,2, D B Calne 1,2,1, C F Elliott 1,2,2
PMCID: PMC494038  PMID: 4113956

Abstract

Observations are presented on a family with muscular weakness and wasting with an onset in childhood, predominantly affecting the proximal muscles in the upper limbs and the distal muscles in the lower. This was accompanied by contractures of the elbows and by pes cavus. Pseudohypertrophy was absent. Progression was slow, but an associated cardiomyopathy developed in adult life. Investigations favoured a myopathic basis. The inheritance was of X-linked recessive pattern and the disorder was linked with deutan colour blindness. The clinical features in this family appear to be distinctive and it is likely that the disorder represents a separate clinical entity.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. ALLEN J. E., RODGIN D. W. Mental retardation in association with progressive dystrophy. Am J Dis Child. 1960 Aug;100:208–211. doi: 10.1001/archpedi.1960.04020040210008. [DOI] [PubMed] [Google Scholar]
  2. BECKER P. E. Neue Ergebnisse der Genetik der Muskeldystrophien. Acta Genet Stat Med. 1957;7(2):303–310. [PubMed] [Google Scholar]
  3. BECKER P. E. Two families of benign sex-linked recessive muscular dystrophy. Rev Can Biol. 1962 Sep-Dec;21:551–566. [PubMed] [Google Scholar]
  4. BRODAL A., BOYESEN S., FROVIG A. G. Progressive neuropathic (peroneal) muscular atrophy (Charcot-Marie-Tooth disease); histological findings in muscle biopsy specimens in fourteen cases, with notes on clinical diagnosis and familial occurrence. AMA Arch Neurol Psychiatry. 1953 Jul;70(1):1–29. [PubMed] [Google Scholar]
  5. Drachman D. B., Murphy S. R., Nigam M. P., Hills J. R. "Myopathic" changes in chronically denervated muscle. Arch Neurol. 1967 Jan;16(1):14–24. doi: 10.1001/archneur.1967.00470190018002. [DOI] [PubMed] [Google Scholar]
  6. Emery A. E., Dreifuss F. E. Unusual type of benign x-linked muscular dystrophy. J Neurol Neurosurg Psychiatry. 1966 Aug;29(4):338–342. doi: 10.1136/jnnp.29.4.338. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Emery A. E. Genetic linkage between the loci for colour blindness and Duchenne type muscular dystrophy. J Med Genet. 1966 Jun;3(2):92–95. doi: 10.1136/jmg.3.2.92. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Emery E. S., Fenichel G. M., Eng G. A spinal muscular atrophy with scapuloperoneal distribution. Arch Neurol. 1968 Feb;18(2):129–133. doi: 10.1001/archneur.1968.00470320031003. [DOI] [PubMed] [Google Scholar]
  9. Feigenbaum J. A., Munsat T. L. A neuromuscular syndrome of scapuloperoneal distribution. Bull Los Angeles Neurol Soc. 1970 Apr;35(2):47–57. [PubMed] [Google Scholar]
  10. HAASE G. R., SHY G. M. Pathological changes in muscle biopsies from patients with peroneal muscular atrophy. Brain. 1960 Dec;83:631–637. doi: 10.1093/brain/83.4.631. [DOI] [PubMed] [Google Scholar]
  11. HAUSMANOWA-PETRUSEWICZ I., ZIELINSKA S. [On the nosological role of the scapulo-peroneal syndrome]. Dtsch Z Nervenheilkd. 1962;183:377–382. [PubMed] [Google Scholar]
  12. Kaeser H. E. Scapuloperoneal muscular atrophy. Brain. 1965 Jun;88(2):407–418. doi: 10.1093/brain/88.2.407. [DOI] [PubMed] [Google Scholar]
  13. Mabry C. C., Roeckel I. E., Munich R. L., Robertson D. X-linked pseudohypertrophic muscular dystrophy with a late onset and slow progression. N Engl J Med. 1965 Nov 11;273(20):1062–1070. doi: 10.1056/NEJM196511112732002. [DOI] [PubMed] [Google Scholar]
  14. Meadows J. C., Marsden C. D. Scapuloperoneal amytrophy. Arch Neurol. 1969 Jan;20(1):9–12. doi: 10.1001/archneur.1969.00480070019002. [DOI] [PubMed] [Google Scholar]
  15. PHILIP U., SMITH C. A., WALTON J. N. Colour blindness and the Duchenne-type muscular dystrophy. Ann Hum Genet. 1956 Nov;21(2):155–158. doi: 10.1111/j.1469-1809.1971.tb00276.x. [DOI] [PubMed] [Google Scholar]
  16. Ricker K., Mertens H. G. The differential diagnosis of the myogenic (facio)-scapulo-peroneal syndrome. Eur Neurol. 1968;1(5):275–307. doi: 10.1159/000113669. [DOI] [PubMed] [Google Scholar]
  17. Rose A. L., Willison R. G. Quantitative electromyography using automatic analysis: studies in healthy subjects and patients with primary muscle disease. J Neurol Neurosurg Psychiatry. 1967 Oct;30(5):403–410. doi: 10.1136/jnnp.30.5.403. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. SEITZ D. Zur nosologischen Stellung des sogenannten scapulo-peronealen Syndroms. Dtsch Z Nervenheilkd. 1957;175(6):547–552. [PubMed] [Google Scholar]
  19. Schuchmann L. Spinal muscular atrophy of the scapulo-peroneal-type. Z Kinderheilkd. 1970;109(2):118–123. doi: 10.1007/BF00438809. [DOI] [PubMed] [Google Scholar]
  20. Shaw R. F., Dreifuss F. E. Mild and severe forms of X-linked muscular dystrophy. Arch Neurol. 1969 May;20(5):451–460. doi: 10.1001/archneur.1969.00480110015001. [DOI] [PubMed] [Google Scholar]
  21. WORDEN D. K., VIGNOS P. J., Jr Intellectual function in childhood progressive muscular dystrophy. Pediatrics. 1962 Jun;29:968–977. [PubMed] [Google Scholar]

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