Myoadenylate Deaminase Deficiency
What else is it called?
- Myopathy due to AMPD1 deficiency
Get in touch
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What causes it?
Myoadenylate deaminase [MADM] deficiency is a metabolic muscle disease which prevents or impacts the level of muscle cell production of a molecule called ATP [adenosine triphosphate] this is known as the energy currency of the body. Previous research has shown that individuals with this condition have a lower level of ATP then those who do not have this condition. Research is not fully developed on this condition and it is not clear what is the causative agent is of this condition.
How common is it?
Due to the rarity of this condition it is unclear how many individuals have been diagnosed with this condition, thereby it is also unclear if this condition is more common amongst males or females or specific ethnic groups.
What are the signs and symptoms?
Signs and symptoms of this condition generally become apparent in early childhood or in early adulthood, symptoms do not progress or worsen. Some of the signs and symptoms of this condition are:
- Infantile hypotonia [low muscle mass in infancy]
- Muscular weakness
- Delayed speech development
- Heart disease
- Early fatigue
- Limping and cramping after exercise
- Exercise intolerance
How is it diagnosed?
Muscle biopsies tend to report no abnormalities however, an individual with this condition tends to lack the enzyme adenylate deaminase, this is apparent in blood samples. Blood samples also present an increased level of creatine phosphokinase.
Can it be treated?
Treatment options are currently limited due to the rarity of this condition. There is promise in the development of gene therapy, development of enzyme replacement therapy and more research is being carried out in an attempt to better understand this condition.
Do my family need to be tested?
MADM can only be passed on to a child if both parents have a copy of the faulty gene. This is called autosomal recessive inheritance. A person who has a copy of the faulty gene is known as a carrier.
If both parents are carriers, their child has a one in four (25%) chance of inheriting the disorder, and a one in two chance (50%) of being a carrier. This is the same for each child the parents have.
If the child only inherits one copy of the faulty gene, they will be a carrier but will not have the disorder. In some rare cases, carriers have had mild symptoms of the disorder for which they carry the faulty gene.
Once you are diagnosed, you can speak to a genetic counsellor. They can explain how you may have inheritedMADM. They can also tell you about genetic testing for the rest of your family. They can provide advice and support if you go on to have children of your own.
If you have previously had a child with MADM and go on to have further children, their New-born Screening test should be carried out within 24-48 hours of birth.