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Muscle AMP deaminase deficiency(MMDD)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Adenosine Monophosphate Deaminase 1; Adenosine monophosphate deaminase 1 deficiency; ADENOSINE MONOPHOSPHATE DEAMINASE-1 DEFICIENCY, MYOPATHY DUE TO; AMP deaminase 1 deficiency; AMPD1 DEFICIENCY; MMDD; Myoadenylate deaminase deficiency; Myoadenylate deaminase deficiency, myopathy due to
Gene (location): AMPD1 (1p13.2)
Monarch Initiative: MONDO:0014220
OMIM®: 615511


Myoadenylate deaminase deficiency (MMDD) is an autosomal recessive condition that can manifest as exercise-induced muscle pain, occasionally associated with rhabdomyolysis and/or increased serum creatine kinase, or even infantile hypotonia. However, the finding of homozygous mutations among asymptomatic individuals have suggested to some (e.g., Verzijl et al., 1998) that AMPD1 deficiency may be a harmless entity (summary by Castro-Gago et al., 2011). Genetta et al. (2001) stated that AMPD1 deficiency is the most prevalent genetic disease in humans, the number of people heterozygous approaching 10% of Caucasians and individuals of African descent (Sabina et al., 1989). A small percentage of homozygous-deficient individuals, approximately 1.8% of the population, display symptoms of chronic fatigue and lost productivity as well as a predisposition to stress-related ailments, including heart disease and stroke, according to Genetta et al. (2001). [from OMIM]

Additional description

From MedlinePlus Genetics
Adenosine monophosphate (AMP) deaminase deficiency is a condition that can affect the muscles used for movement (skeletal muscles). In many affected individuals, AMP deaminase deficiency does not cause any symptoms. People who do experience symptoms typically have fatigue, muscle pain (myalgia), or cramps after exercise or prolonged physical activity (exercise intolerance). Following strenuous activity, they often get tired more quickly and stay tired longer than would normally be expected. In rare cases, affected individuals have more severe symptoms including severe muscle weakness, low muscle tone (hypotonia), and muscle wasting (atrophy), but it is unclear whether these symptoms are due solely to AMP deaminase deficiency or additional health conditions. Exercise intolerance associated with AMP deaminase deficiency usually becomes apparent in childhood or early adulthood.  https://medlineplus.gov/genetics/condition/adenosine-monophosphate-deaminase-deficiency

Clinical features

From HPO
Exercise-induced myalgia
MedGen UID:
Concept ID:
Sign or Symptom
The occurrence of an unusually high amount of muscle pain following exercise.
MedGen UID:
Concept ID:
Absence of neurologic reflexes such as the knee-jerk reaction.
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Concept ID:
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
MedGen UID:
Concept ID:
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
MedGen UID:
Concept ID:
Pathologic Function
Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
Muscle weakness
MedGen UID:
Concept ID:
Reduced strength of muscles.
Skeletal muscle atrophy
MedGen UID:
Concept ID:
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Increased muscle fatiguability
MedGen UID:
Concept ID:
An abnormal, increased fatiguability of the musculature.

Professional guidelines


Norman B, Nygren AT, Nowak J, Sabina RL
Eur J Appl Physiol 2008 May;103(2):173-80. Epub 2008 Jan 26 doi: 10.1007/s00421-008-0683-0. PMID: 18224333
Norman B, Sabina RL, Jansson E
J Appl Physiol (1985) 2001 Jul;91(1):258-64. doi: 10.1152/jappl.2001.91.1.258. PMID: 11408438

Recent clinical studies

Clinical prediction guides

Sabbatini AR, Toscano A, Aguennouz M, Martini D, Polizzi E, Ranieri-Raggi M, Moir AJ, Migliorato A, Musumeci O, Vita G, Raggi A
J Muscle Res Cell Motil 2006;27(1):83-92. Epub 2006 Mar 29 doi: 10.1007/s10974-006-9059-4. PMID: 16570231
Mineo I, Tarui S
Muscle Nerve Suppl 1995;3:S75-81. doi: 10.1002/mus.880181416. PMID: 7603532

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