Hypotonic infant with PURA syndrome-related channelopathy successfully treated with pyridostigmine

Wyrebek, Rita; DiBartolomeo, Mara; Brooks, Sandra; Geller, Thomas J.; Crenshaw, Melissa; Iyadurai, Stanley

doi:10.1016/j.nmd.2022.01.005

Cited by 5 publications

(5 citation statements)

References 14 publications

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“…There is no effective FDA‐approved drug for PURA‐NDDs. However, pyridostigmine may be effective for the muscular/neuromuscular junction presentation observed in PURA‐NDDs because this drug inhibits the action of acetylcholinesterase and is generally used for symptomatic treatment in patients with myasthenia gravis 7,28 . Moreover, salbutamol, fluoxetine, and 4‐aminopyridine should also be considered as a treatment for specific symptoms associated with PURA‐NDDs 7 …”

Section: Discussionmentioning

confidence: 99%

Heterozygous c.175C>T variant in PURA gene causes severe developmental delay

Noda,

Kido,

Misumi

et al. 2023

Clinical Case Reports

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Key Clinical MessageThis case report presents a child with PURA‐related neurodevelopmental disorder, caused by the heterozygous pathogenic variant c.175C>T (p.Gln59*). The clinical symptoms included microcephaly, brachygnathia, central and peripheral hypotonia, and developmental delay (non‐verbal), among others. On comparison with published literature, even patients with the same mutation present different clinical symptoms.AbstractThis case report presents a child with PURA‐related neurodevelopmental disorder, caused by the heterozygous pathogenic variant c.175C>T (p.Gln59*), whose symptoms included microcephaly, brachygnathia, the development of a high anterior hairline, hip dysplasia, strabismus, severe hypotonia, developmental delay (non‐meaningful verbal), feeding difficulties, and respiratory difficulties. His development ceased with age, such that his development at 10 years corresponded to an infant of 6 months. Moreover, even patients with the same variant can have different clinical symptoms, such as the presence or absence of epilepsy or congenital malformations. Therefore, we should follow his long‐term clinical course and provide medical support as necessary.

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Section: Discussionmentioning

confidence: 99%

Heterozygous c.175C>T variant in PURA gene causes severe developmental delay

Noda,

Kido,

Misumi

et al. 2023

Clinical Case Reports

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“…Three patients with PURA -CMS showing fluctuating muscle weakness were reported in 2022 [ 55 , 442 ]. One patient showed decremental CAMP, as well as R-CMAP that was much higher than that observed in COLQ -CMS and SCCMS [ 55 ].…”

Section: Thirty-five Genes In 14 Groups Of Cmsmentioning

confidence: 99%

“…Another patient showed decremental CAMP followed by incremental CMAP [ 55 ]. The third patient showed no decremental CMAP at 3 Hz nerve stimulation but showed non-significant incremental CMAP at 30 Hz stimulation [ 442 ]. Two patients were neonates [ 55 , 442 ] and the other was 5 years old [ 55 ].…”

Section: Thirty-five Genes In 14 Groups Of Cmsmentioning

confidence: 99%

“…The third patient showed no decremental CMAP at 3 Hz nerve stimulation but showed non-significant incremental CMAP at 30 Hz stimulation [ 442 ]. Two patients were neonates [ 55 , 442 ] and the other was 5 years old [ 55 ]. The 5-year-old patient became free of symptoms indicating defective NMJ signal transmission after age 2 years.…”

Section: Thirty-five Genes In 14 Groups Of Cmsmentioning

confidence: 99%

“…In a patient, ChEI was ineffective, but salbutamol (albuterol) was effective and unnecessitated non-invasive positive pressure ventilation (NIPPV) because of amelioration of episodic apnea [ 55 ]. In another patient, ChEI had markedly ameliorated motor deficits [ 442 ].…”

Section: Thirty-five Genes In 14 Groups Of Cmsmentioning

confidence: 99%

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Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review

Ohno

Ohkawara

Shen

et al. 2023

IJMS

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Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by impaired neuromuscular signal transmission due to germline pathogenic variants in genes expressed at the neuromuscular junction (NMJ). A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, PURA, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TOR1AIP1, UNC13A, VAMP1). The 35 genes can be classified into 14 groups according to the pathomechanical, clinical, and therapeutic features of CMS patients. Measurement of compound muscle action potentials elicited by repetitive nerve stimulation is required to diagnose CMS. Clinical and electrophysiological features are not sufficient to identify a defective molecule, and genetic studies are always required for accurate diagnosis. From a pharmacological point of view, cholinesterase inhibitors are effective in most groups of CMS, but are contraindicated in some groups of CMS. Similarly, ephedrine, salbutamol (albuterol), amifampridine are effective in most but not all groups of CMS. This review extensively covers pathomechanical and clinical features of CMS by citing 442 relevant articles.

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