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Agraphesthesia

MedGen UID:
488967
Concept ID:
C1328618
Mental or Behavioral Dysfunction
HPO: HP:0011812

Definition

Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination). [from HPO]

Conditions with this feature

Syndromic X-linked intellectual disability Hedera type
MedGen UID:
337257
Concept ID:
C1845543
Disease or Syndrome
The Hedera type of X-linked syndromic intellectual developmental disorder (MRXSH) is characterized by global developmental delay apparent from infancy and progressive neurologic decline with abnormal movements, spasticity, and seizures. Brain imaging shows volume loss of cortical white and gray matter, thin corpus callosum, and myelination defects, consistent with a neurodegenerative process. Only males are affected (summary by Hirose et al., 2019).

Recent clinical studies

Etiology

Falchook AD, Watson RT, Heilman KM
Neurocase 2016 Jun;22(3):306-11. Epub 2016 Feb 29 doi: 10.1080/13554794.2016.1148743. PMID: 26928117
Davis AS, Mazur-Mosiewicz A, Dean RS
Appl Neuropsychol 2010 Oct;17(4):262-6. doi: 10.1080/09084282.2010.525102. PMID: 21154039

Diagnosis

Davis AS, Mazur-Mosiewicz A, Dean RS
Appl Neuropsychol 2010 Oct;17(4):262-6. doi: 10.1080/09084282.2010.525102. PMID: 21154039
Heilman KM, Coenen A, Kluger B
Cogn Behav Neurol 2008 Mar;21(1):14-7. doi: 10.1097/WNN.0b013e318165b133. PMID: 18327018
Bachoud-Lévi AC, Ergis AM, Cesaro P, Degos JD
Cortex 2000 Jun;36(3):351-63. doi: 10.1016/s0010-9452(08)70846-3. PMID: 10921664
Thienemann M, Koran LM
J Neuropsychiatry Clin Neurosci 1995 Spring;7(2):218-22. doi: 10.1176/jnp.7.2.218. PMID: 7626966

Therapy

Muayqil TA, Alanazy MH, Al-Herbish MJ, Al-Nafisah M, Halawani LM, Al-Bader SS, Al-Yousef LM, Aljafen BN
Eur Neurol 2018;80(1-2):19-27. Epub 2018 Aug 21 doi: 10.1159/000492183. PMID: 30130746
Thienemann M, Koran LM
J Neuropsychiatry Clin Neurosci 1995 Spring;7(2):218-22. doi: 10.1176/jnp.7.2.218. PMID: 7626966

Prognosis

Falchook AD, Watson RT, Heilman KM
Neurocase 2016 Jun;22(3):306-11. Epub 2016 Feb 29 doi: 10.1080/13554794.2016.1148743. PMID: 26928117
Davis AS, Mazur-Mosiewicz A, Dean RS
Appl Neuropsychol 2010 Oct;17(4):262-6. doi: 10.1080/09084282.2010.525102. PMID: 21154039
Thienemann M, Koran LM
J Neuropsychiatry Clin Neurosci 1995 Spring;7(2):218-22. doi: 10.1176/jnp.7.2.218. PMID: 7626966

Clinical prediction guides

Muayqil TA, Alanazy MH, Al-Herbish MJ, Al-Nafisah M, Halawani LM, Al-Bader SS, Al-Yousef LM, Aljafen BN
Eur Neurol 2018;80(1-2):19-27. Epub 2018 Aug 21 doi: 10.1159/000492183. PMID: 30130746
Falchook AD, Watson RT, Heilman KM
Neurocase 2016 Jun;22(3):306-11. Epub 2016 Feb 29 doi: 10.1080/13554794.2016.1148743. PMID: 26928117
Davis AS, Mazur-Mosiewicz A, Dean RS
Appl Neuropsychol 2010 Oct;17(4):262-6. doi: 10.1080/09084282.2010.525102. PMID: 21154039
Bachoud-Lévi AC, Ergis AM, Cesaro P, Degos JD
Cortex 2000 Jun;36(3):351-63. doi: 10.1016/s0010-9452(08)70846-3. PMID: 10921664
Thienemann M, Koran LM
J Neuropsychiatry Clin Neurosci 1995 Spring;7(2):218-22. doi: 10.1176/jnp.7.2.218. PMID: 7626966

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