U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Muscular dystrophy, congenital, with rapid progression(MDRP)

MedGen UID:
338135
Concept ID:
C1850840
Disease or Syndrome
Synonym: MDRP
 
Gene (location): BET1 (7q21.3)
 
Monarch Initiative: MONDO:0009682
OMIM®: 254100

Disease characteristics

Excerpted from the GeneReview: LAMA2 Muscular Dystrophy
The clinical manifestations of LAMA2 muscular dystrophy (LAMA2-MD) comprise a continuous spectrum ranging from severe congenital muscular dystrophy type 1A (MDC1A) to milder late-onset LAMA2-MD. MDC1A is typically characterized by neonatal profound hypotonia, poor spontaneous movements, and respiratory failure. Failure to thrive, gastroesophageal reflux, aspiration, and recurrent chest infections necessitating frequent hospitalizations are common. As disease progresses, facial muscle weakness, temporomandibular joint contractures, and macroglossia may further impair feeding and can affect speech. In late-onset LAMA2-MD onset of manifestations range from early childhood to adulthood. Affected individuals may show muscle hypertrophy and develop a rigid spine syndrome with joint contractures, usually most prominent in the elbows. Progressive respiratory insufficiency, scoliosis, and cardiomyopathy can occur. [from GeneReviews]
Authors:
Jorge Oliveira  |  João Parente Freixo  |  Manuela Santos, et. al.   view full author information

Additional description

From OMIM
Congenital muscular dystrophy with rapid progression (MDRP) is an autosomal recessive neurodegenerative disorder characterized by hypotonia and poor feeding apparent in infancy, delayed motor development with poor head control and inability to sit or walk, progressive weakness and lethargy, and respiratory insufficiency. Some patients may have features of central nervous system involvement, including poor or absent speech and seizures, as well as cataracts. Serum creatine kinase is elevated, and muscle biopsy shows nonspecific dystrophic or myopathic changes. The disorder is rapidly progressive, resulting in death in infancy or early childhood (Donkervoort et al., 2021).  http://www.omim.org/entry/254100

Clinical features

From HPO
Muscular dystrophy
MedGen UID:
44527
Concept ID:
C0026850
Disease or Syndrome
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.

Professional guidelines

PubMed

Kakulas BA
Curr Opin Neurol 1996 Oct;9(5):380-8. doi: 10.1097/00019052-199610000-00012. PMID: 8894415
Brown LW
Rev Infect Dis 1979 Jul-Aug;1(4):625-9. doi: 10.1093/clinids/1.4.625. PMID: 233167

Recent clinical studies

Etiology

Specht S, Straub V
Neuromuscul Disord 2021 Oct;31(10):988-997. doi: 10.1016/j.nmd.2021.08.012. PMID: 34736636
Tan D, Ge L, Fan Y, Chang X, Wang S, Wei C, Ding J, Liu A, Wang S, Li X, Gao K, Yang H, Que C, Huang Z, Li C, Zhu Y, Mao B, Jin B, Hua Y, Zhang X, Zhang B, Zhu W, Zhang C, Wang Y, Yuan Y, Jiang Y, Rutkowski A, Bönnemann CG, Wu X, Xiong H
Orphanet J Rare Dis 2021 Jul 19;16(1):319. doi: 10.1186/s13023-021-01950-x. PMID: 34281576Free PMC Article
Warman Chardon J, Díaz-Manera J, Tasca G, Bönnemann CG, Gómez-Andrés D, Heerschap A, Mercuri E, Muntoni F, Pichiecchio A, Ricci E, Walter MC, Hanna M, Jungbluth H, Morrow JM, Fernández-Torrón R, Udd B, Vissing J, Yousry T, Quijano-Roy S, Straub V, Carlier RY; MYO-MRI Working Group
Neuromuscul Disord 2019 Nov;29(11):827-841. Epub 2019 Sep 16 doi: 10.1016/j.nmd.2019.08.011. PMID: 31727541
Simonds AK
Eur Respir J Suppl 2003 Nov;47:38s-46s. doi: 10.1183/09031936.03.00029803. PMID: 14621116
Vainzof M, Zatz M
Braz J Med Biol Res 2003 May;36(5):543-55. Epub 2003 Apr 22 doi: 10.1590/s0100-879x2003000500001. PMID: 12715073

Diagnosis

Specht S, Straub V
Neuromuscul Disord 2021 Oct;31(10):988-997. doi: 10.1016/j.nmd.2021.08.012. PMID: 34736636
Warman Chardon J, Díaz-Manera J, Tasca G, Bönnemann CG, Gómez-Andrés D, Heerschap A, Mercuri E, Muntoni F, Pichiecchio A, Ricci E, Walter MC, Hanna M, Jungbluth H, Morrow JM, Fernández-Torrón R, Udd B, Vissing J, Yousry T, Quijano-Roy S, Straub V, Carlier RY; MYO-MRI Working Group
Neuromuscul Disord 2019 Nov;29(11):827-841. Epub 2019 Sep 16 doi: 10.1016/j.nmd.2019.08.011. PMID: 31727541
Yonekawa T, Nishino I
J Neurol Neurosurg Psychiatry 2015 Mar;86(3):280-7. Epub 2014 Jun 17 doi: 10.1136/jnnp-2013-307052. PMID: 24938411
Vainzof M, Zatz M
Braz J Med Biol Res 2003 May;36(5):543-55. Epub 2003 Apr 22 doi: 10.1590/s0100-879x2003000500001. PMID: 12715073
Kakulas BA
Curr Opin Neurol 1996 Oct;9(5):380-8. doi: 10.1097/00019052-199610000-00012. PMID: 8894415

Therapy

Nakajima T, Sankai Y, Takata S, Kobayashi Y, Ando Y, Nakagawa M, Saito T, Saito K, Ishida C, Tamaoka A, Saotome T, Ikai T, Endo H, Ishii K, Morita M, Maeno T, Komai K, Ikeda T, Ishikawa Y, Maeshima S, Aoki M, Ito M, Mima T, Miura T, Matsuda J, Kawaguchi Y, Hayashi T, Shingu M, Kawamoto H
Orphanet J Rare Dis 2021 Jul 7;16(1):304. doi: 10.1186/s13023-021-01928-9. PMID: 34233722Free PMC Article
Simonds AK
Eur Respir J Suppl 2003 Nov;47:38s-46s. doi: 10.1183/09031936.03.00029803. PMID: 14621116

Prognosis

Picillo E, Torella A, Passamano L, Nigro V, Politano L
Acta Myol 2022 Jun;41(2):95-98. Epub 2022 Jun 30 doi: 10.36185/2532-1900-073. PMID: 35832501Free PMC Article
Kim SY, Kim WJ, Kim H, Choi SA, Lee JS, Cho A, Jang SS, Lim BC, Kim KJ, Kim JI, Hahn SH, Chae JH
Muscle Nerve 2018 Sep;58(3):381-388. doi: 10.1002/mus.26093. PMID: 29406609
Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, Aloysius A, Clement E, North B, Manzur AY, Robb SA, Mercuri E, Muntoni F
Neurology 2009 Jul 7;73(1):25-31. doi: 10.1212/WNL.0b013e3181aae851. PMID: 19564581
Simonds AK
Eur Respir J Suppl 2003 Nov;47:38s-46s. doi: 10.1183/09031936.03.00029803. PMID: 14621116
Vainzof M, Zatz M
Braz J Med Biol Res 2003 May;36(5):543-55. Epub 2003 Apr 22 doi: 10.1590/s0100-879x2003000500001. PMID: 12715073

Clinical prediction guides

Nakajima T, Sankai Y, Takata S, Kobayashi Y, Ando Y, Nakagawa M, Saito T, Saito K, Ishida C, Tamaoka A, Saotome T, Ikai T, Endo H, Ishii K, Morita M, Maeno T, Komai K, Ikeda T, Ishikawa Y, Maeshima S, Aoki M, Ito M, Mima T, Miura T, Matsuda J, Kawaguchi Y, Hayashi T, Shingu M, Kawamoto H
Orphanet J Rare Dis 2021 Jul 7;16(1):304. doi: 10.1186/s13023-021-01928-9. PMID: 34233722Free PMC Article
Jelinkova S, Sleiman Y, Fojtík P, Aimond F, Finan A, Hugon G, Scheuermann V, Beckerová D, Cazorla O, Vincenti M, Amedro P, Richard S, Jaros J, Dvorak P, Lacampagne A, Carnac G, Rotrekl V, Meli AC
Int J Mol Sci 2021 May 10;22(9) doi: 10.3390/ijms22095025. PMID: 34068508Free PMC Article
Kim SY, Kim WJ, Kim H, Choi SA, Lee JS, Cho A, Jang SS, Lim BC, Kim KJ, Kim JI, Hahn SH, Chae JH
Muscle Nerve 2018 Sep;58(3):381-388. doi: 10.1002/mus.26093. PMID: 29406609
Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, Aloysius A, Clement E, North B, Manzur AY, Robb SA, Mercuri E, Muntoni F
Neurology 2009 Jul 7;73(1):25-31. doi: 10.1212/WNL.0b013e3181aae851. PMID: 19564581
Murakami T, Hayashi YK, Noguchi S, Ogawa M, Nonaka I, Tanabe Y, Ogino M, Takada F, Eriguchi M, Kotooka N, Campbell KP, Osawa M, Nishino I
Ann Neurol 2006 Nov;60(5):597-602. doi: 10.1002/ana.20973. PMID: 17036286

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.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...