Congenital muscular dystrophy with intellectual disability and severe epilepsy

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Congenital muscular dystrophy with intellectual disability and severe epilepsy

Synonyms: CDG syndrome type Iu | CDG-Iu | CDG1U | CMD with intellectual disability and severe epilepsy | Carbohydrate deficient glycoprotein syndrome type Iu | Congenital disorder of glycosylation type 1u | Congenital disorder of glycosylation type Iu | DPM2-CDG

A rare fatal inborn error of metabolism disorder characterized by 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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Congenital muscular dystrophy with intellectual disability and severe epilepsy?

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Advocacy Organizations

Association Aux Pas du Coeur

Our organization wants to raise awareness and recognize rare diseases in Côte d'Ivoire. Our mission is to: Raising awareness and campaigning to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession so that doctors are able to make a final diagnosis and ensure the continuous follow-up of patients. Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. Create a close-knit patient community. Break the isolation and despair of sick people and their families. Open up to the world and actively contribute to international research aimed at treatments.

CDG CARE

Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.

Girls Chronically Rock

Girls Chronically Rock is a fashion brand for the disability community. The word "chronic" in its name is a reference to people living with chronic illnesses. The fashion line is a collection of apparel items for people living with disability with clothing specially designed for men and women. The company's mission is to create, motivate, encourage, inspire, and let people know that you rock and

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Portuguese Association for CDG

The APCDG aims to holistically support families affected by a CDG. Our mission based on the pillars of disease awareness, education, research and to subsequently, speed up the development of therapies that will significantly benefit patients and their family members. We believe that only by adopting a patient-centric approach we will find ways to improve their quality of life.

Clinical Trials

For a list of clinical trials in this disease area, please click here.