Congenital cardiac defects, ichthyosis, and hypertrichosis may be present. The skin over the dorsum of the hands and feet often appears dark. Ataxia is sometimes present and MRIs may reveal vermal and cerebellar hypoplasia. [disorders.eyes.arizona.edu]

Osteopenia or osteoporosis was present in all patients of our cohort, sometimes with severe clinical implications. [ojrd.biomedcentral.com]

Affected individuals may also present with eye, skin, and cardiac disease, as well as facial dysmorphisms. [atm.amegroups.com]

"Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review". Journal of Inherited Metabolic Disease. 32 Suppl 1: S313-9. doi:10.1007/s10545-009-1262-1. PMID 19757145. [en.wikipedia.org]

Now, some CDG types have been recognized as presenting with ASD [76], with most frequent presented in Table 5. [mdpi.com]

• Recurrent Bacterial Infection

  LAD II, first identified in 1992 (78), is characterized from infancy by recurrent bacterial infections, failure to thrive, deficient physical growth, microcephaly and moderate psychomotor retardation. The face is mildly dysmorphic. [nature.com]

• Global Developmental Delay

  Constitutionally, patients commonly have failure to thrive due to feeding and GI abnormalities and global developmental delay. [atm.amegroups.com]

  In NGLY1-CDDG the most common presentation is global developmental delay, hyperkinetic movement disorder, peripheral neuropathy, alacrimia/hypolacrimia [103]. [mdpi.com]

Conclusion We confirm that CDG screening should be a part of the routine workup of adolescent/adult patients with sporadic or presumably autosomal recessive cerebellar ataxia, even in the absence of other suggestive signs. [ojrd.biomedcentral.com]

For over 40 years, our department has specialized in the diagnosis and treatment of inherited metabolic diseases. [heidelberg-university-hospital.com]

Treatment and Prognosis To date, there are no known specific treatment options for ALG12-CDG. Treatment is aimed at the management of symptoms and the prevention of complications. Some ALG12-CDG patients die within the first years of life. [fcdgc.rarediseasesnetwork.org]

Treatment Treatment Options: The administration of caloric supplements through tube feeding may be required to maintain adequate nutrition.Orthopedic deformities can sometimes be corrected surgically. [disorders.eyes.arizona.edu]

We suggest routine screening and follow-up for ophthalmological anomalies in all children diagnosed with CDG syndrome to provide early treatment and adequate counselling. [pubmed.ncbi.nlm.nih.gov]

More than 115 mutations in PMM2 gene have been found to cause this disease.[13] Treatment[edit] There is no cure for PMM2 deficiency. [en.wikipedia.org]

Treatment and Prognosis To date, there are no known specific treatment options for ALG12-CDG. Treatment is aimed at the management of symptoms and the prevention of complications. Some ALG12-CDG patients die within the first years of life. [fcdgc.rarediseasesnetwork.org]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

Details about these treatments are under the “Targeted Therapies and Prognosis” section below. [atm.amegroups.com]

Prognosis depends on the underlying etiology, which is diverse and includes infections, perinatal events and genetic disorders. [mdpi.com]

Clinical features and genetic etiology of more common CDG by pathway is summarized in Table S1. [atm.amegroups.com]

Prognosis depends on the underlying etiology, which is diverse and includes infections, perinatal events and genetic disorders. [mdpi.com]

Epidemiology The incidence and prevalence of all types of CDG in aggregate have not been well established, although patients have been reported worldwide from almost every ethnic background and both sexes are equally affected. [atm.amegroups.com]

Although the pathophysiology of multitude symptoms remains to be elucidated, the relationship between certain glycosylation pathways and specific clinical symptoms has been clarified. [atm.amegroups.com]

Treatment is aimed at the management of symptoms and the prevention of complications. Some ALG12-CDG patients die within the first years of life. Mild cases, however, seem to have a good life expectancy. [fcdgc.rarediseasesnetwork.org]

Early diagnosis allows us to initiate specific treatment as soon as possible after birth and thus prevent disability and deaths. [heidelberg-university-hospital.com]

N-linked type I forms of CDG have genetic defects that prevent the oligosaccharide building blocks from attaching to proteins as new proteins are formed. [chop.edu]

This has been mentioned in other samples of adult PMM2-CDG patients [16],[23] and implies the importance of specific monitoring to prevent fractures. [ojrd.biomedcentral.com]

In gene therapy, the defective gene present in a patient is replaced with a normal gene to enable the production of the active enzyme and prevent the development and progression of the disease. [rarediseases.org]