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Hereditary myoclonus and progressive distal muscular atrophy.
Jankovic J, Rivera VM. Jankovic J, et al. Ann Neurol. 1979 Sep;6(3):227-31. doi: 10.1002/ana.410060309. Ann Neurol. 1979. PMID: 534421
Myoclonus occurs in a variety of pathological conditions, some inherited. We recently evaluated 3 members of a Louisiana-Texas family with an autosomal dominant disorder manifested by adult-onset, generalized, stimulus-sensitive myoclonus and slowly progressive d
Myoclonus occurs in a variety of pathological conditions, some inherited. We recently evaluated 3 members of a Louisiana-Texas family
Myoclonus and neurodegenerative disease--what's in a name?
Caviness JN. Caviness JN. Parkinsonism Relat Disord. 2003 Mar;9(4):185-92. doi: 10.1016/s1353-8020(02)00054-8. Parkinsonism Relat Disord. 2003. PMID: 12618052 Review.
Myoclonus is a clinical symptom (or sign) defined as sudden, brief, shock-like, involuntary movements caused by muscular contractions or inhibitions. ...Neurodegenerative syndromes are potential causes of symptomatic myoclonus. Such syndromes include multiple
Myoclonus is a clinical symptom (or sign) defined as sudden, brief, shock-like, involuntary movements caused by muscular contr
Anterior interosseous nerve lession and distal myoclonus revealing a parsonage turner syndrome associated with hashimoto thyroiditys.
Musa J, Rahman M, Siddik AB, Saliaj K, Ikram S, Kola I, Shoushtarizadeh A, Guy A, Mamica I, Rahman A, Ahsan E, Cobo A, Blanco R. Musa J, et al. Radiol Case Rep. 2021 Aug 26;16(11):3176-3181. doi: 10.1016/j.radcr.2021.07.067. eCollection 2021 Nov. Radiol Case Rep. 2021. PMID: 34484514 Free PMC article.
On physical examination, the patient could not make an "Ok sign" with her thumb and distal phalanx or form a complete fist, revealing weakness within the anterior interosseous branch of the median nerve. Further testing with electromyography demonstrated muscular
On physical examination, the patient could not make an "Ok sign" with her thumb and distal phalanx or form a complete fist, revealing …
New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software.
Pyromali I, Perani A, Nizou A, Benslimane N, Derouault P, Bourthoumieu S, Fradin M, Sole G, Duval F, Gomes C, Favreau F, Sturtz F, Magdelaine C, Lia AS. Pyromali I, et al. Comput Struct Biotechnol J. 2021 Jul 30;19:4265-4272. doi: 10.1016/j.csbj.2021.07.037. eCollection 2021. Comput Struct Biotechnol J. 2021. PMID: 34429846 Free PMC article.
Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content.
Kyriakou K, Lederer CW, Kleanthous M, Drousiotou A, Malekkou A. Kyriakou K, et al. Int J Mol Sci. 2020 Feb 26;21(5):1607. doi: 10.3390/ijms21051607. Int J Mol Sci. 2020. PMID: 32111095 Free PMC article.
Mutations in the ASAH1 gene cause two different disorders, Farber disease (FD), a rare lysosomal storage disorder, and a rare form of spinal muscular atrophy combined with progressive myoclonic epilepsy (SMA-PME). ...
Mutations in the ASAH1 gene cause two different disorders, Farber disease (FD), a rare lysosomal storage disorder, and a rare form of spinal …
ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.
Mahmoud IG, Elmonem MA, Zaki MS, Ramadan A, Al-Menabawy NM, El-Gamal A, Mansour L, Issa MY, Abdel-Hamid MS, Abdel-Hady S, Khalifa I, Ibrahim A, Solyom A, Rolfs A, Selim L. Mahmoud IG, et al. Clin Genet. 2020 Dec;98(6):598-605. doi: 10.1111/cge.13834. Epub 2020 Sep 2. Clin Genet. 2020. PMID: 32875576
Acid ceramidase deficiency is an orphan lysosomal disorder caused by ASAH1 pathogenic variants and presenting with either Farber disease or spinal muscle atrophy with progressive myoclonic epilepsy (SMA-PME). Phenotypic and genotypic features are rarely explored beyond the …
Acid ceramidase deficiency is an orphan lysosomal disorder caused by ASAH1 pathogenic variants and presenting with either Farber disease or …
Polymyoclonus aggravated by neck flexion as the isolated presenting symptom of Hirayama disease: case report.
Kim JY, Hwang SK, Kwon S, Park JS. Kim JY, et al. BMC Neurol. 2020 Sep 1;20(1):325. doi: 10.1186/s12883-020-01904-z. BMC Neurol. 2020. PMID: 32873232 Free PMC article.
The cervical magnetic resonance imaging on supine and flexion state showed prominent forward effacement of posterior dural sac that was compatible with HD. CONCLUSIONS: HD usually presents with unilateral distal hand weakness, muscle atrophy and tremor. Although it …
The cervical magnetic resonance imaging on supine and flexion state showed prominent forward effacement of posterior dural sac that was comp …