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Diminished movement

MedGen UID:
871229
Concept ID:
C4025710
Finding
HPO: HP:0002374

Conditions with this feature

Deficiency of aromatic-L-amino-acid decarboxylase
MedGen UID:
220945
Concept ID:
C1291564
Disease or Syndrome
Aromatic L-amino acid decarboxylase deficiency (AADCD) is an autosomal recessive inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency (Abeling et al., 2000). The disorder is clinically characterized by vegetative symptoms, oculogyric crises, dystonia, and severe neurologic dysfunction, usually beginning in infancy or childhood (summary by Brun et al., 2010).

Professional guidelines

PubMed

Staley M, Richard R
J Burn Care Rehabil 1993 Sep-Oct;14(5):559-65. doi: 10.1097/00004630-199309000-00012. PMID: 8245112

Recent clinical studies

Etiology

Heinrichs-Graham E, Wilson TW, Santamaria PM, Heithoff SK, Torres-Russotto D, Hutter-Saunders JA, Estes KA, Meza JL, Mosley RL, Gendelman HE
Cereb Cortex 2014 Oct;24(10):2669-78. Epub 2013 May 3 doi: 10.1093/cercor/bht121. PMID: 23645717Free PMC Article
Pap G, Meyer M, Weiler HT, Machner A, Awiszus F
Acta Orthop Scand 2000 Apr;71(2):153-9. doi: 10.1080/000164700317413120. PMID: 10852321
Staley M, Richard R
J Burn Care Rehabil 1993 Sep-Oct;14(5):559-65. doi: 10.1097/00004630-199309000-00012. PMID: 8245112
Baskett TF, Liston RM
Clin Perinatol 1989 Sep;16(3):613-25. PMID: 2673611
Hawkins RJ, Brock RM, Abrams JS, Hobeika P
J Bone Joint Surg Br 1988 Nov;70(5):795-7. doi: 10.1302/0301-620X.70B5.3192582. PMID: 3192582

Diagnosis

Kirsch M, Guldenmund P, Ali Bahri M, Demertzi A, Baquero K, Heine L, Charland-Verville V, Vanhaudenhuyse A, Bruno MA, Gosseries O, Di Perri C, Ziegler E, Brichant JF, Soddu A, Bonhomme V, Laureys S
Anesth Analg 2017 Feb;124(2):588-598. doi: 10.1213/ANE.0000000000001721. PMID: 27941576
Thapa B, Thapa A, Aryal DR, Thapa K, Pun A, Khanal S, Mahat K
JNMA J Nepal Med Assoc 2013 Oct-Dec;52(192):549-56. PMID: 25327225
Wray D, Oko MO, Boldy DA, Butt MT
J Laryngol Otol 2009 May;123(5):569-71. Epub 2008 Aug 15 doi: 10.1017/S0022215108003393. PMID: 18702845
Marengo J, Harrow M, Herbener ES, Sands J
Psychiatry Res 2000 Dec 4;97(1):61-77. doi: 10.1016/s0165-1781(00)00218-3. PMID: 11104858

Therapy

Seim CE, Wolf SL, Starner TE
J Neuroeng Rehabil 2021 Jan 23;18(1):14. doi: 10.1186/s12984-021-00813-7. PMID: 33485371Free PMC Article
Zorbas YG, Kakuris KK, Federenko YF, Deogenov VA
Nutrition 2010 Nov-Dec;26(11-12):1134-8. Epub 2010 Apr 3 doi: 10.1016/j.nut.2010.01.013. PMID: 20363596
Zorbas YG, Petrov KL, Yarullin VL, Kakurin VJ, Popov VK, Deogeneov VA
Acta Astronaut 2002 May;50(10):641-51. doi: 10.1016/s0094-5765(01)00216-8. PMID: 12053939
Zorbas YG, Kakurin VJ, Kuznetsov NA, Yarullin VL, Andreyev ID, Charapakhin KP
Biol Trace Elem Res 2002 Jan;85(1):1-22. doi: 10.1385/BTER:85:1:01. PMID: 11881795
Pap G, Meyer M, Weiler HT, Machner A, Awiszus F
Acta Orthop Scand 2000 Apr;71(2):153-9. doi: 10.1080/000164700317413120. PMID: 10852321

Prognosis

Thapa B, Thapa A, Aryal DR, Thapa K, Pun A, Khanal S, Mahat K
JNMA J Nepal Med Assoc 2013 Oct-Dec;52(192):549-56. PMID: 25327225
Kim SM, McCulloch TM, Bae H, Kim SJ
Ann Otol Rhinol Laryngol 2006 Nov;115(11):864-70. doi: 10.1177/000348940611501112. PMID: 17165671
Marengo J, Harrow M, Herbener ES, Sands J
Psychiatry Res 2000 Dec 4;97(1):61-77. doi: 10.1016/s0165-1781(00)00218-3. PMID: 11104858
Pap G, Meyer M, Weiler HT, Machner A, Awiszus F
Acta Orthop Scand 2000 Apr;71(2):153-9. doi: 10.1080/000164700317413120. PMID: 10852321

Clinical prediction guides

Kirsch M, Guldenmund P, Ali Bahri M, Demertzi A, Baquero K, Heine L, Charland-Verville V, Vanhaudenhuyse A, Bruno MA, Gosseries O, Di Perri C, Ziegler E, Brichant JF, Soddu A, Bonhomme V, Laureys S
Anesth Analg 2017 Feb;124(2):588-598. doi: 10.1213/ANE.0000000000001721. PMID: 27941576
Thapa B, Thapa A, Aryal DR, Thapa K, Pun A, Khanal S, Mahat K
JNMA J Nepal Med Assoc 2013 Oct-Dec;52(192):549-56. PMID: 25327225
Kim SM, McCulloch TM, Bae H, Kim SJ
Ann Otol Rhinol Laryngol 2006 Nov;115(11):864-70. doi: 10.1177/000348940611501112. PMID: 17165671
Zorbas YG, Kakurin VJ, Denogratov SD, Yarullin VL, Deogenov VA
Biol Trace Elem Res 2001 Jun;80(3):201-19. doi: 10.1385/BTER:80:3:201. PMID: 11508626
Baskett TF, Liston RM
Clin Perinatol 1989 Sep;16(3):613-25. PMID: 2673611

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