Which are the symptoms of PMM2-CDG?

PMM2-CDG (Phosphomannomutase 2-congenital disorder of glycosylation) is a rare genetic disorder that affects the body's ability to produce and process certain proteins and sugars. It is caused by mutations in the PMM2 gene, which is responsible for the production of an enzyme called phosphomannomutase 2.

Individuals with PMM2-CDG may experience a wide range of symptoms that can vary in severity. The disorder can affect multiple systems in the body, leading to both physical and developmental issues. Some of the common symptoms include:

• Developmental delays: Children with PMM2-CDG may experience delays in reaching developmental milestones such as sitting, crawling, walking, and talking. These delays can vary from mild to severe.


• Intellectual disability: Many individuals with PMM2-CDG have intellectual disability, ranging from mild to moderate. This can affect their learning abilities, problem-solving skills, and overall cognitive development.


• Failure to thrive: Infants with PMM2-CDG may have difficulty gaining weight and growing at a normal rate. This can be due to feeding difficulties, poor appetite, or metabolic issues.


• Distinct facial features: Some individuals with PMM2-CDG may have facial features that are characteristic of the disorder. These can include a small head size, a prominent forehead, a flat nasal bridge, and widely spaced eyes.


• Organ dysfunction: PMM2-CDG can affect various organs in the body, leading to problems such as liver dysfunction, kidney abnormalities, heart defects, and impaired blood clotting.


• Seizures: Some individuals with PMM2-CDG may experience seizures, which can vary in frequency and severity.


• Motor difficulties: Children with PMM2-CDG may have muscle weakness, poor coordination, and difficulties with fine and gross motor skills.


• Abnormalities in blood coagulation: PMM2-CDG can affect the body's ability to form blood clots, leading to an increased risk of bleeding or abnormal bruising.


• Visceral involvement: In some cases, PMM2-CDG can affect the functioning of internal organs, leading to issues such as gastrointestinal problems, respiratory difficulties, and hormonal imbalances.

It is important to note that the symptoms and their severity can vary widely among individuals with PMM2-CDG. Some individuals may have milder symptoms and lead relatively normal lives, while others may have more severe impairments requiring significant medical and developmental support.

Diagnosis of PMM2-CDG is typically done through genetic testing to identify mutations in the PMM2 gene. Early diagnosis is crucial for appropriate management and intervention strategies.

Treatment for PMM2-CDG is mainly supportive and focuses on managing the specific symptoms and complications associated with the disorder. This may involve a multidisciplinary approach, including medical specialists, physical and occupational therapists, speech therapists, and educational support.

In conclusion, PMM2-CDG is a rare genetic disorder that affects various systems in the body. It can lead to developmental delays, intellectual disability, failure to thrive, distinct facial features, organ dysfunction, seizures, motor difficulties, abnormalities in blood coagulation, and visceral involvement. Early diagnosis and a comprehensive treatment plan can help individuals with PMM2-CDG manage their symptoms and improve their quality of life.