U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Myopathy, congenital, with fiber-type disproportion, X-linked(CFTDX)

MedGen UID:
440714
Concept ID:
C2749128
Disease or Syndrome
Synonym: CFTDX
 
Monarch Initiative: MONDO:0010365
OMIM®: 300580

Clinical features

From HPO
Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Decreased body weight
MedGen UID:
1806755
Concept ID:
C5574742
Finding
Abnormally low body weight.
Poor suck
MedGen UID:
324693
Concept ID:
C1837142
Finding
An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Myopathy
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Facial palsy
MedGen UID:
87660
Concept ID:
C0376175
Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Generalized neonatal hypotonia
MedGen UID:
336857
Concept ID:
C1845123
Finding
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.
Frontalis muscle weakness
MedGen UID:
347143
Concept ID:
C1859438
Finding
Reduced strength of the frontalis muscle (which is located on the forehead).
Type 1 fibers relatively smaller than type 2 fibers
MedGen UID:
871106
Concept ID:
C4025571
Finding
The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers.
Respiratory distress
MedGen UID:
96907
Concept ID:
C0476273
Sign or Symptom
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Respiratory insufficiency due to muscle weakness
MedGen UID:
812797
Concept ID:
C3806467
Finding
Weak cry
MedGen UID:
65892
Concept ID:
C0234860
Finding
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

Professional guidelines

PubMed

Kušíková K, Šoltýsová A, Ficek A, Feichtinger RG, Mayr JA, Škopková M, Gašperíková D, Kolníková M, Ornig K, Kalev O, Weis S, Weis D
Genes (Basel) 2023 Dec 3;14(12) doi: 10.3390/genes14122174. PMID: 38136996Free PMC Article
D'Amico A, Longo A, Fattori F, Tosi M, Bosco L, Chiarini Testa MB, Paglietti MG, Cherchi C, Carlesi A, Mizzoni I, Bertini E
Orphanet J Rare Dis 2021 Oct 12;16(1):425. doi: 10.1186/s13023-021-02055-1. PMID: 34641930Free PMC Article
McEntagart M, Parsons G, Buj-Bello A, Biancalana V, Fenton I, Little M, Krawczak M, Thomas N, Herman G, Clarke A, Wallgren-Pettersson C
Neuromuscul Disord 2002 Dec;12(10):939-46. doi: 10.1016/s0960-8966(02)00153-0. PMID: 12467749

Recent clinical studies

Etiology

Shieh PB, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Servais L, Smith BK, Muntoni F, Blaschek A, Foley AR, Saade DN, Neuhaus S, Alfano LN, Beggs AH, Buj-Bello A, Childers MK, Duong T, Graham RJ, Jain M, Coats J, MacBean V, James ES, Lee J, Mavilio F, Miller W, Varfaj F, Murtagh M, Han C, Noursalehi M, Lawlor MW, Prasad S, Rico S
Lancet Neurol 2023 Dec;22(12):1125-1139. doi: 10.1016/S1474-4422(23)00313-7. PMID: 37977713
Graham RJ, Muntoni F, Hughes I, Yum SW, Kuntz NL, Yang ML, Byrne BJ, Prasad S, Alvarez R, Genetti CA, Haselkorn T, James ES, LaRusso LB, Noursalehi M, Rico S, Beggs AH
Arch Dis Child 2020 Apr;105(4):332-338. Epub 2019 Sep 4 doi: 10.1136/archdischild-2019-317910. PMID: 31484632Free PMC Article
Pelin K, Wallgren-Pettersson C
Semin Pediatr Neurol 2019 Apr;29:12-22. Epub 2019 Jan 17 doi: 10.1016/j.spen.2019.01.005. PMID: 31060721
Sewry CA, Wallgren-Pettersson C
Neuropathol Appl Neurobiol 2017 Feb;43(1):5-23. doi: 10.1111/nan.12369. PMID: 27976420
Fan HC, Lee CM, Harn HJ, Cheng SN, Yuh YS
Am J Perinatol 2003 May;20(4):173-9. doi: 10.1055/s-2003-40603. PMID: 12874727

Diagnosis

Lawlor MW, Dowling JJ
Neuromuscul Disord 2021 Oct;31(10):1004-1012. doi: 10.1016/j.nmd.2021.08.003. PMID: 34736623
Graham RJ, Muntoni F, Hughes I, Yum SW, Kuntz NL, Yang ML, Byrne BJ, Prasad S, Alvarez R, Genetti CA, Haselkorn T, James ES, LaRusso LB, Noursalehi M, Rico S, Beggs AH
Arch Dis Child 2020 Apr;105(4):332-338. Epub 2019 Sep 4 doi: 10.1136/archdischild-2019-317910. PMID: 31484632Free PMC Article
Jungbluth H, Wallgren-Pettersson C, Laporte J
Orphanet J Rare Dis 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. PMID: 18817572Free PMC Article
Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH
J Neuropathol Exp Neurol 2005 Jul;64(7):555-64. doi: 10.1097/01.jnen.0000171653.17213.2e. PMID: 16042307
Fan HC, Lee CM, Harn HJ, Cheng SN, Yuh YS
Am J Perinatol 2003 May;20(4):173-9. doi: 10.1055/s-2003-40603. PMID: 12874727

Therapy

Shieh PB, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Servais L, Smith BK, Muntoni F, Blaschek A, Foley AR, Saade DN, Neuhaus S, Alfano LN, Beggs AH, Buj-Bello A, Childers MK, Duong T, Graham RJ, Jain M, Coats J, MacBean V, James ES, Lee J, Mavilio F, Miller W, Varfaj F, Murtagh M, Han C, Noursalehi M, Lawlor MW, Prasad S, Rico S
Lancet Neurol 2023 Dec;22(12):1125-1139. doi: 10.1016/S1474-4422(23)00313-7. PMID: 37977713
Andreoletti G, Romano O, Chou HJ, Sefid-Dashti MJ, Grilli A, Chen C, Lakshman N, Purushothaman P, Varfaj F, Mavilio F, Bicciato S, Urbinati F
Am J Hum Genet 2023 Oct 5;110(10):1648-1660. Epub 2023 Sep 5 doi: 10.1016/j.ajhg.2023.08.008. PMID: 37673065Free PMC Article
Tabebordbar M, Lagerborg KA, Stanton A, King EM, Ye S, Tellez L, Krunnfusz A, Tavakoli S, Widrick JJ, Messemer KA, Troiano EC, Moghadaszadeh B, Peacker BL, Leacock KA, Horwitz N, Beggs AH, Wagers AJ, Sabeti PC
Cell 2021 Sep 16;184(19):4919-4938.e22. Epub 2021 Sep 9 doi: 10.1016/j.cell.2021.08.028. PMID: 34506722Free PMC Article
Lloyd A, Aggio D, Slocomb TL, Lee J, Beggs AH, Bilder DA
J Neuromuscul Dis 2021;8(6):1047-1061. doi: 10.3233/JND-210686. PMID: 34250946Free PMC Article
Annoussamy M, Lilien C, Gidaro T, Gargaun E, Chê V, Schara U, Gangfuß A, D'Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, Cuisset JM, Vuillerot C, Fontaine S, Bellance R, Biancalana V, Buj-Bello A, Hogrel JY, Landy H, Servais L
Neurology 2019 Apr 16;92(16):e1852-e1867. Epub 2019 Mar 22 doi: 10.1212/WNL.0000000000007319. PMID: 30902907Free PMC Article

Prognosis

van Putten M
Dis Model Mech 2022 Jul 1;15(7) Epub 2022 Aug 1 doi: 10.1242/dmm.049788. PMID: 35912512Free PMC Article
Graham RJ, Muntoni F, Hughes I, Yum SW, Kuntz NL, Yang ML, Byrne BJ, Prasad S, Alvarez R, Genetti CA, Haselkorn T, James ES, LaRusso LB, Noursalehi M, Rico S, Beggs AH
Arch Dis Child 2020 Apr;105(4):332-338. Epub 2019 Sep 4 doi: 10.1136/archdischild-2019-317910. PMID: 31484632Free PMC Article
Annoussamy M, Lilien C, Gidaro T, Gargaun E, Chê V, Schara U, Gangfuß A, D'Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, Cuisset JM, Vuillerot C, Fontaine S, Bellance R, Biancalana V, Buj-Bello A, Hogrel JY, Landy H, Servais L
Neurology 2019 Apr 16;92(16):e1852-e1867. Epub 2019 Mar 22 doi: 10.1212/WNL.0000000000007319. PMID: 30902907Free PMC Article
Jungbluth H, Wallgren-Pettersson C, Laporte J
Orphanet J Rare Dis 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. PMID: 18817572Free PMC Article
Fan HC, Lee CM, Harn HJ, Cheng SN, Yuh YS
Am J Perinatol 2003 May;20(4):173-9. doi: 10.1055/s-2003-40603. PMID: 12874727

Clinical prediction guides

Shieh PB, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Servais L, Smith BK, Muntoni F, Blaschek A, Foley AR, Saade DN, Neuhaus S, Alfano LN, Beggs AH, Buj-Bello A, Childers MK, Duong T, Graham RJ, Jain M, Coats J, MacBean V, James ES, Lee J, Mavilio F, Miller W, Varfaj F, Murtagh M, Han C, Noursalehi M, Lawlor MW, Prasad S, Rico S
Lancet Neurol 2023 Dec;22(12):1125-1139. doi: 10.1016/S1474-4422(23)00313-7. PMID: 37977713
Lawlor MW, Dowling JJ
Neuromuscul Disord 2021 Oct;31(10):1004-1012. doi: 10.1016/j.nmd.2021.08.003. PMID: 34736623
Graham RJ, Muntoni F, Hughes I, Yum SW, Kuntz NL, Yang ML, Byrne BJ, Prasad S, Alvarez R, Genetti CA, Haselkorn T, James ES, LaRusso LB, Noursalehi M, Rico S, Beggs AH
Arch Dis Child 2020 Apr;105(4):332-338. Epub 2019 Sep 4 doi: 10.1136/archdischild-2019-317910. PMID: 31484632Free PMC Article
Annoussamy M, Lilien C, Gidaro T, Gargaun E, Chê V, Schara U, Gangfuß A, D'Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, Cuisset JM, Vuillerot C, Fontaine S, Bellance R, Biancalana V, Buj-Bello A, Hogrel JY, Landy H, Servais L
Neurology 2019 Apr 16;92(16):e1852-e1867. Epub 2019 Mar 22 doi: 10.1212/WNL.0000000000007319. PMID: 30902907Free PMC Article
Fan HC, Lee CM, Harn HJ, Cheng SN, Yuh YS
Am J Perinatol 2003 May;20(4):173-9. doi: 10.1055/s-2003-40603. PMID: 12874727

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...