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Cylindrical spirals myopathy

MedGen UID:
371817
•Concept ID:
C1834418
•
Disease or Syndrome
Synonym: Myotonic myopathy with cylindrical spirals
 
Monarch Initiative: MONDO:0008058
OMIM®: 160990
Orphanet: ORPHA171886

Definition

Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCylindrical spirals myopathy

Recent clinical studies

Etiology

Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations.
Santhoshkumar R, Narayanappa G
Indian J Pathol Microbiol 2022 May;65(Supplement):S291-S299. doi: 10.4103/ijpm.ijpm_1113_21. PMID: 35562161
Protein aggregate myopathies.
Sharma MC, Goebel HH
Neurol India 2005 Sep;53(3):273-9. doi: 10.4103/0028-3886.16921. PMID: 16230791

Diagnosis

Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations.
Santhoshkumar R, Narayanappa G
Indian J Pathol Microbiol 2022 May;65(Supplement):S291-S299. doi: 10.4103/ijpm.ijpm_1113_21. PMID: 35562161
Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy.
Malfatti E, Chaves M, Bellance R, Viou MT, Sarrazin E, Fardeau M, Romero NB
Muscle Nerve 2015 Nov;52(5):895-9. Epub 2015 Jun 18 doi: 10.1002/mus.24699. PMID: 25959956
Ultrastructural myopathology in the molecular era.
Goebel HH, Stenzel W
Ultrastruct Pathol 2013 Oct;37(5):328-31. doi: 10.3109/01913123.2013.810690. PMID: 24047350
Practical application of electron microscopy to neuromuscular diseases.
Goebel HH, Stenzel W
Ultrastruct Pathol 2013 Feb;37(1):15-8. doi: 10.3109/01913123.2012.670045. PMID: 23383613
Cylindrical spirals in skeletal muscle: a further observation with clinical, morphological, and biochemical analysis.
Gibbels E, Henke U, Schädlich HJ, Haupt WF, Fiehn W
Muscle Nerve 1983 Nov-Dec;6(9):646-55. doi: 10.1002/mus.880060905. PMID: 6318106

Prognosis

Cylindrical spirals in two families: Clinical and genetic investigations.
Beecroft SJ, Olive M, Quereda LG, Gallano P, Ojanguren I, McLean C, McCombe P, Laing NG, Ravenscroft G
Neuromuscul Disord 2020 Feb;30(2):151-158. Epub 2019 Dec 25 doi: 10.1016/j.nmd.2019.12.006. PMID: 31952901
Practical application of electron microscopy to neuromuscular diseases.
Goebel HH, Stenzel W
Ultrastruct Pathol 2013 Feb;37(1):15-8. doi: 10.3109/01913123.2012.670045. PMID: 23383613

Clinical prediction guides

Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations.
Santhoshkumar R, Narayanappa G
Indian J Pathol Microbiol 2022 May;65(Supplement):S291-S299. doi: 10.4103/ijpm.ijpm_1113_21. PMID: 35562161
Cylindrical spirals in two families: Clinical and genetic investigations.
Beecroft SJ, Olive M, Quereda LG, Gallano P, Ojanguren I, McLean C, McCombe P, Laing NG, Ravenscroft G
Neuromuscul Disord 2020 Feb;30(2):151-158. Epub 2019 Dec 25 doi: 10.1016/j.nmd.2019.12.006. PMID: 31952901
Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures.
Brady S, Healy EG, Gang Q, Parton M, Quinlivan R, Jacob S, Curtis E, Al-Sarraj S, Sewry CA, Hanna MG, Houlden H, Beeson D, Holton JL
J Neuropathol Exp Neurol 2016 Dec;75(12):1171-1178. doi: 10.1093/jnen/nlw096. PMID: 27941137
Practical application of electron microscopy to neuromuscular diseases.
Goebel HH, Stenzel W
Ultrastruct Pathol 2013 Feb;37(1):15-8. doi: 10.3109/01913123.2012.670045. PMID: 23383613
Structure and composition of tubular aggregates of skeletal muscle fibres.
Pavlovicová M, Novotová M, Zahradník I
Gen Physiol Biophys 2003 Dec;22(4):425-40. PMID: 15113116

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