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Kehitysvammahuollon tietopankki

hoitajapiirros

Vaikea lihasjänteyden heikkous ja hengitysvaikeudet, riippuvat silmäluomet sekä silmälihasten halvaus

X-linkittynyt myotubulaarinen myopatia


Harvinaisen oireiston peruspiirteet ovat vaikea lihasjänteyden heikkous ja hengitysvaikeudet, riippuvat silmäluomet ja silmälihasten halvaus. Vammautuneiden pää on isokokoinen (makrokefalia), mikä saattaa olla seurausta vesipäisyydestä (hydrokefalia). Kasvot ovat pitkänomaiset ja sormet hennot.

Syntyvät pojat ovat velttoja ja heillä on vaikeita nielemisvaikeuksia. Kitalaki on usein korkea, nivelet jäykät ja kivekset piiloutuneet. Useimmat menehtyvät jo varhaisessa lapsuudessa. Eloon jääneet ovat yleensä psyykkisesti kehitysvammaisia ja motorinen kehitys on jälkeenjäänyttä.

Perinnöllinen geenivirhe (MTM1-geeni) sijaitsee X-kromosomin pitkässä varressa (Xq28). Alue tunnetaan monen kehitysvammaoireyhtymän aiheuttajana. Van Wijngaarden kumppaneineen kuvasi oireiston v.1969.

Lisätietoja:

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes, Stanley Jablonski 1999
MYOTUBULAR MYOPATHY 1; MTM1, OMIM, Victor A. McKusick, Rebekah S. Rasooly, Sonja A. Rasmussen et al.
MYOTUBULARIN; MTM1, OMIM, Cassandra L. Kniffin, Victor A. McKusick
Xq28, MTM1 to Xq28, TREX2, MIM Gene map

X-linked recessive congenital muscle fiber hypotrophy with central nuclei: abnormalities of growth and adenylate cyclase in muscle tissue cultures, Askanas V, Engel WK, Reddy NB, Barth PG, Bethlem J, Krauss DR, Hibberd ME, Lawrence JV, Carter LS, Arch Neurol. 1979 Oct;36(10):604-9 - PubMed

Neonatal myotubular myopathy: neuropathy and failure of postnatal maturation of fetal muscle, Sarnat HB, Roth SI, Jimenez JF, Can J Neurol Sci. 1981 Nov;8(4):313-20 - PubMed
Severe neonatal centronuclear myopathy with autosomal dominant inheritance, Torres CF, Griggs RC, Goetz JP, Arch Neurol. 1985 Oct;42(10):1011-4 - PubMed
Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children, Heckmatt JZ, Sewry CA, Hodes D, Dubowitz V, Brain. 1985 Dec;108 ( Pt 4):941-64 - PubMed
X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female, Keppen LD, Husain MM, Woody RC, Clin Genet. 1987 Aug;32(2):95-9 - PubMed
Congenital eventration of the diaphragm: an unusual cause of intractable neonatal respiratory distress with variable etiology, Moerman P, Fryns JP, Devlieger H, Van Assche A, Lauweryns J, Am J Med Genet. 1987 May;27(1):213-8 - PubMed
X-linked myotubular myopathy: clinical and pathological findings in a family, Oldfors A, Kyllerman M, Wahlstrom J, Darnfors C, Henriksson KG, Clin Genet. 1989 Jul;36(1):5-14 - PubMed

Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle, Sarnat HB, Can J Neurol Sci. 1990 May;17(2):109-23 - PubMed
A linkage study of a large pedigree with X linked centronuclear myopathy, Starr J, Lamont M, Iselius L, Harvey J, Heckmatt J, J Med Genet. 1990 May;27(5):281-3 - PubMed
X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28, Lehesjoki AE, Sankila EM, Miao J, Somer M, Salonen R, Rapola J, de la Chapelle A, J Med Genet. 1990 May;27(5):288-91 - PubMed
Severe neonatal asphyxia due to X-linked centronuclear myopathy, Braga SE, Gerber A, Meier C, Weiersmuller A, Zimmermann A, Herrmann U, Liechti S, Moser H, Eur J Pediatr. 1990 Dec;150(2):132-5 - PubMed
X-linked centronuclear myopathy: mapping the gene to Xq28, Liechti-Gallati S, Muller B, Grimm T, Kress W, Muller C, Boltshauser E, Moser H, Braga S, Neuromuscul Disord. 1991;1(4):239-45 - PubMed
Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy, Breningstall GN, Grover WD, Marks HG, Am J Med Genet. 1991 Apr 1;39(1):13-8 - PubMed
Vimentin and desmin in maturing skeletal muscle and developmental myopathies, Sarnat HB, Neurology. 1992 Aug;42(8):1616-24 - PubMed
X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684), Dahl N, Samson F, Thomas NS, Hu LJ, Gong W, Herman G, Laporte J, Kioschis P, Poustka A, Mandel JL, J Med Genet. 1994 Dec;31(12):922-4 - PubMed
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region, Dahl N, Hu LJ, Chery M, Fardeau M, Gilgenkrantz S, Nivelon-Chevallier A, Sidaner-Noisette I, Mugneret F, Gouyon JB, Gal A, et al, Am J Hum Genet. 1995 May;56(5):1108-15 - PubMed
Genetic linkage heterogeneity in myotubular myopathy, Samson F, Mesnard L, Heimburger M, Hanauer A, Chevallay M, Mercadier JJ, Pelissier JF, Feingold N, Junien C, Mandel JL, et al, Am J Hum Genet. 1995 Jul;57(1):120-6 - PubMed
X-linked myotubular myopathy: clinical observations in ten additional cases, Joseph M, Pai GS, Holden KR, Herman G, Am J Med Genet. 1995 Nov 6;59(2):168-73 - PubMed
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies, Wallgren-Pettersson C, Clarke A, Samson F, Fardeau M, Dubowitz V, Moser H, Grimm T, Barohn RJ, Barth PG, J Med Genet. 1995 Sep;32(9):673-9 - PubMed
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast, Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N, Nat Genet. 1996 Jun;13(2):175-82 - PubMed
Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene, Tanner SM, Laporte J, Guiraud-Chaumeil C, Liechti-Gallati S, Hum Mutat. 1998;11(1):62-8 - PubMed
Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity, Vincent MC, Guiraud-Chaumeil C, Laporte J, Manouvrier-Hanu S, Mandel JL, J Med Genet. 1998 Mar;35(3):241-3 - PubMed
Medical complications in long-term survivors with X-linked myotubular myopathy, Herman GE, Finegold M, Zhao W, de Gouyon B, Metzenberg A, J Pediatr. 1999 Feb;134(2):206-14 - PubMed
Germline mosaicism in X-linked myotubular myopathy, Hane BG, Rogers RC, Schwartz CE, Clin Genet. 1999 Jul;56(1):77-81 - PubMed
Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother, Tanner SM, Orstavik KH, Kristiansen M, Lev D, Lerman-Sagie T, Sadeh M, Liechti-Gallati S, Hum Genet. 1999 Mar;104(3):249-53 - PubMed
MTM1 mutations in X-linked myotubular myopathy. Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren-Pettersson C,

Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel JL, Hum Mutat. 2000;15(5):393-409 - PubMed
A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy, Hammans SR, Robinson DO, Moutou C, Kennedy CR, Dennis NR, Hughes PJ, Ellison DW, Neuromuscul Disord. 2000 Feb;10(2):133-7 - PubMed
Diagnosis of X-linked myotubular myopathy by detection of myotubularin, Laporte J, Kress W, Mandel JL, Ann Neurol. 2001 Jul;50(1):42-6. - PubMed
Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations, Sutton IJ, Winer JB, Norman AN, Liechti-Gallati S, MacDonald F, Neurology. 2001 Sep 11;57(5):900-2 - PubMed
X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation, Schara U, Kress W, Tucke J, Mortier W, Neurology. 2003 Apr 22;60(8):1363-5 - PubMed

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice, Buj-Bello A, Laugel V, Messaddeq N, Zahreddine H, Laporte J, Pellissier JF, Mandel JL, Proceedings of the National Academy of Sciences, PNAS 2002 Nov 12;99(23):15060-5

Myopathy, Myotubular, Myotubular Trust

Lihastautiliitto, lihassairaudet
X-kromosomin kehitysvammat

Kari Viitapohja 21.2.2004, 14.9.2004


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