What is PMM2-CDG?
PMM2 deficiency or PMM2-CDG is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disorder. A defective copy of the PMM2 gene is the most common cause of a disease called “congenital disorders of glycosylation” or “PMM2-CDG”. PMM2-CDG is the most common of a growing family of more than 100 extremely rare inherited metabolic disorders. Only about 1000 children and adults have been reported worldwide.
Other Names for PMM2 Deficiency
- Carbohydrate-deficient Glycoprotein Syndrome (CDGS) Type Ia
- Congenital Disorder of Glycosylation (CDG) Type Ia
- Phosphomannomutase Deficiency
- Jaeken Syndrome
Signs and symptoms
- Failure to thrive (FTT) – Failure to gain weight and grow at the expected rate.
- Cerebellar hypoplasia – Small cerebellum, which is the part of the brain that coordinates movement.
- Liver disease – Elevated liver function tests.
- Pericardial effusion – Fluid around the heart.
- Peripheral neuropathy (PN) – Impaired nerve impulse transmission to the legs. Patients do not respond well to reflex tests.
- Strabismus – Crossed eyes, mainly presented as infantile Esotropia.
- Nystagmus – Involuntary eye movements caused by Cerebellar ataxia.
- Hypotonia – Weak muscle tone, commonly known as floppy baby syndrome.
What is Amour?
Amour means ‘Resilient’ in Armenian and ‘Love’ in French. It’s not a coincidence that CDG kids are Amour. Our goal is for children with CDG to be ‘Amour’ so that they can live to their fullest potential, walk, talk, smile and laugh like all children. The ultimate vision of the Amour Fund is to find a cure for Congenital Disorders of Glycosylation (CDG) by supporting CDG research. Amour fund honors disadvantaged children, raises awareness about rare diseases, advocates for screening, and provides assistance to those in need.
- Fund medical research for CDG
- Raise awareness of CDG and CDG treatment
- Assist in ongoing treatments
- Add CDG to newborn screening programs
- Provide educational assistance
- Provide durable medical equipment to children in need
- Assist with school placement and education for CDG children
- Provide assistance to disadvantaged kids