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Congenital muscular dystrophy with intellectual disability and severe epilepsy(CDG1U; CDGIu)

MedGen UID:
1682844
Concept ID:
C5190603
Disease or Syndrome
Synonyms: CDG Iu; Congenital disorder of glycosylation type 1u; DPM2-CDG (CDG-Iu)
SNOMED CT: Congenital muscular dystrophy with intellectual disability and severe epilepsy (782772000); Congenital disorder of glycosylation type 1u (782772000); Carbohydrate deficient glycoprotein syndrome type 1u (782772000)
Modes of inheritance:
 
DPM2 (9q34.11)
 
Monarch Initiative: MONDO:0014023
OMIM®: 615042
Orphanet: ORPHA329178

Definition

A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. [from SNOMEDCT_US]

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Camelo CG, Artilheiro MC, Martins Moreno CA, Ferraciolli SF, Serafim Silva AM, Fernandes TR, Lucato LT, Rocha AJ, Reed UC, Zanoteli E
J Neuromuscul Dis 2023;10(4):483-492. doi: 10.3233/JND-221638. PMID: 37182895Free PMC Article
Quijano-Roy S, Haberlova J, Castiglioni C, Vissing J, Munell F, Rivier F, Stojkovic T, Malfatti E, Gómez García de la Banda M, Tasca G, Costa Comellas L, Benezit A, Amthor H, Dabaj I, Gontijo Camelo C, Laforêt P, Rendu J, Romero NB, Cavassa E, Fattori F, Beroud C, Zídková J, Leboucq N, Løkken N, Sanchez-Montañez Á, Ortega X, Kynčl M, Metay C, Gómez-Andrés D, Carlier RY
J Neurol 2022 May;269(5):2414-2429. Epub 2021 Sep 24 doi: 10.1007/s00415-021-10806-0. PMID: 34559299
Camacho A, Núñez N, Dekomien G, Hernández-Laín A, de Aragón AM, Simón R
Eur J Paediatr Neurol 2015 Mar;19(2):243-7. Epub 2014 Dec 2 doi: 10.1016/j.ejpn.2014.11.005. PMID: 25500573

Diagnosis

Quijano-Roy S, Haberlova J, Castiglioni C, Vissing J, Munell F, Rivier F, Stojkovic T, Malfatti E, Gómez García de la Banda M, Tasca G, Costa Comellas L, Benezit A, Amthor H, Dabaj I, Gontijo Camelo C, Laforêt P, Rendu J, Romero NB, Cavassa E, Fattori F, Beroud C, Zídková J, Leboucq N, Løkken N, Sanchez-Montañez Á, Ortega X, Kynčl M, Metay C, Gómez-Andrés D, Carlier RY
J Neurol 2022 May;269(5):2414-2429. Epub 2021 Sep 24 doi: 10.1007/s00415-021-10806-0. PMID: 34559299
Arvio M, Määttänen L, Haanpää M, Lähdetie J
Am J Med Genet A 2019 Dec;179(12):2481-2485. Epub 2019 Oct 3 doi: 10.1002/ajmg.a.61369. PMID: 31580529
Jensen BS, Willer T, Saade DN, Cox MO, Mozaffar T, Scavina M, Stefans VA, Winder TL, Campbell KP, Moore SA, Mathews KD
Hum Mutat 2015 Dec;36(12):1159-63. Epub 2015 Sep 23 doi: 10.1002/humu.22898. PMID: 26310427Free PMC Article
Echenne B, Rivier F, Jellali AJ, Azais M, Mornet D, Pons F
Neuromuscul Disord 1997 May;7(3):187-90. doi: 10.1016/s0960-8966(97)00452-5. PMID: 9185183

Therapy

Camacho A, Núñez N, Dekomien G, Hernández-Laín A, de Aragón AM, Simón R
Eur J Paediatr Neurol 2015 Mar;19(2):243-7. Epub 2014 Dec 2 doi: 10.1016/j.ejpn.2014.11.005. PMID: 25500573

Clinical prediction guides

Camelo CG, Artilheiro MC, Martins Moreno CA, Ferraciolli SF, Serafim Silva AM, Fernandes TR, Lucato LT, Rocha AJ, Reed UC, Zanoteli E
J Neuromuscul Dis 2023;10(4):483-492. doi: 10.3233/JND-221638. PMID: 37182895Free PMC Article
Quijano-Roy S, Haberlova J, Castiglioni C, Vissing J, Munell F, Rivier F, Stojkovic T, Malfatti E, Gómez García de la Banda M, Tasca G, Costa Comellas L, Benezit A, Amthor H, Dabaj I, Gontijo Camelo C, Laforêt P, Rendu J, Romero NB, Cavassa E, Fattori F, Beroud C, Zídková J, Leboucq N, Løkken N, Sanchez-Montañez Á, Ortega X, Kynčl M, Metay C, Gómez-Andrés D, Carlier RY
J Neurol 2022 May;269(5):2414-2429. Epub 2021 Sep 24 doi: 10.1007/s00415-021-10806-0. PMID: 34559299
Jensen BS, Willer T, Saade DN, Cox MO, Mozaffar T, Scavina M, Stefans VA, Winder TL, Campbell KP, Moore SA, Mathews KD
Hum Mutat 2015 Dec;36(12):1159-63. Epub 2015 Sep 23 doi: 10.1002/humu.22898. PMID: 26310427Free PMC Article
Echenne B, Arthuis M, Billard C, Campos-Castello J, Castel Y, Dulac O, Fontan D, Gauthier A, Kulakowski S, De Meuron G
J Neurol Sci 1986 Aug;75(1):7-22. doi: 10.1016/0022-510x(86)90046-8. PMID: 3091775

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