Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Congenital myasthenic syndrome

Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.

Input patient's signs and symptoms

Narrow down the case reports

Total: 87 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
1 (36.8%)	30719842	Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum. Murali C, Li D, Grand K, Hakonarson H, Bhoj E. Am J Med Genet A. 2019;179(4):655-658. [ Show abstract ] [ Hide abstract ]
		Late-onset proximal muscle weakness Ankyloglossia
		MUSK

		Child Cholinergic Receptors Heterozygote Homo sapiens Infant Male Mutation Phenotype Receptor Protein-Tyrosine Kinases Sibling Vocal Cord Paralysis
2 (35.4%)	25500013	Congenital myasthenic syndrome caused by mutations in DPAGT. Klein A, Robb S, Rushing E, Liu WW, Belaya K, Beeson D. Neuromuscul Disord. 2015;25(3):253-6. [ Show abstract ] [ Hide abstract ]
		Cognitive impairment Long fingers
		DPAGT1
		rs1185483085 rs772988029
		Differential Diagnosis HEK293 Cells Homo sapiens Leg Magnetic Resonance Imaging Male Mutation Myasthenic Syndromes, Congenital Myotonia Congenita N-Acetylglucosaminyltransferases
3 (27.3%)	22987706	Limb-girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations. Huh SY, Kim HS, Jang HJ, Park YE, Kim DS. Muscle Nerve. 2012;46(4):600-4. [ Show abstract ] [ Hide abstract ]
		Limb muscle weakness
		BCHE GFPT1
		p\|SUB\|E\|256\|Q p\|SUB\|M\|499\|T
		Females Genes, Recessive Glutamine-Fructose-6-Phosphate Transaminase (Isome... Homo sapiens Male Myasthenic Syndromes, Congenital Neuromuscular Junction
4 (23.3%)	29118959 (5658635)	Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile. Bevilacqua JA, Lara M, Diaz J, Campero M, Vazquez J, Maselli RA. Eur J Transl Myol. 2017;27(3):6832. [ Show abstract ] [ Hide abstract ]
		Bilateral ptosis Scoliosis

		c\|DEL\|1457\|C c\|SUB\|G\|473\|A;RS#:767909551\|754633490 p\|SUB\|P\|486\|R p\|SUB\|R\|158\|Q;RS#:754633490

4 (23.3%)	27717316 (5055717)	A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report. Chang T, Cossins J, Beeson D. BMC Neurol. 2016;16(1):195. [ Show abstract ] [ Hide abstract ]
		Ptosis Scoliosis
		CHRNE
		c\|DUP\|183_187\|CTCAC\|
		Base Sequence Females Homo sapiens Mutation Myasthenic Syndromes, Congenital Nicotinic Receptors
4 (23.3%)	25199331	[Anesthetic management of scoliosis surgery for a patient with congenital myasthenic syndrome]. Emura M, Ishii H, Baba H. Masui. 2014;63(8):911-4. [ Show abstract ] [ Hide abstract ]
		Scoliosis
		ACHE

		General Anesthesia Homo sapiens Intestines Lung Compliance Male Myasthenic Syndromes, Congenital Perioperative Care Piperidines Positive-Pressure Respiration Postoperative Complications Respiration, Artificial Stomach
4 (23.3%)	23452772	[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience]. Eymard B, Stojkovic T, Sternberg D, Richard P, Nicole S, Fournier E, Behin A, Laforet P, Servais L, Romero N, Fardeau M, Hantai D. Rev Neurol (Paris). 2013;169 Suppl 1:S45-55. [ Show abstract ] [ Hide abstract ]
		Confusion Scoliosis
		AGRN CHRNA1 CHRNE COLQ DOK7 RAPSN

		Adult Central Nervous System Stimulants Child Delayed Diagnosis Diagnostic Errors Disease Progression Females France Homo sapiens Information Centers Male Middle Aged Myasthenic Syndromes, Congenital Pregnancy Young Adult
4 (23.3%)	23365176	Congenital familial myasthenic syndromes: disease and course in an affected dizygotic twin pair. Pavone P, Pratico AD, Pavone V, Falsaperla R. BMJ Case Rep. 2013;2013:. [ Show abstract ] [ Hide abstract ]
		Ptosis Lumbar hyperlordosis
		RAPSN

		Child Cholinesterase Inhibitors Genotype Homo sapiens Male Myasthenic Syndromes, Congenital Phenotype
4 (23.3%)	22153632	When straight eyes won't move: phenotypic overlap of genetically distinct ocular motility disturbances. Oystreck DT, Salih MA, Bosley TM. Can J Ophthalmol. 2011;46(6):477-80. [ Show abstract ] [ Hide abstract ]
		Scoliosis


		Child Child, Preschool Differential Diagnosis Eye Movements Females Homo sapiens Male Middle Aged Ocular Motility Disorders Phenotype Retrospective Studies Vision, Binocular
10 (21.2%)	11435464	Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D. J Clin Invest. 2001;108(1):125-30. [ Show abstract ] [ Hide abstract ]
		Multiple joint contractures

		p\|SUB\|E\|59\|K rs121909504 rs879255564 \|INS\|756\|2
		Action Potentials Alleles Amino Acid Sequence Amino Acid Substitution Animals Arthrogryposis Cholinergic Receptors DNA Mutational Analysis Electromyography Females Fetal Proteins Homo sapiens Infant, Newborn Kinetics Male Missense Mutation Molecular Sequence Data Motor Endplate Mutagenesis, Insertional Myasthenia Gravis Phenotype Protein Isoforms Protein Subunits Sequence Alignment Sequence Homology, Amino Acid Vertebrates

Phenotype(s) retrieved from Orphanet

Total: 68

HPO ID	Term	Frequency
HP:0000467	Neck muscle weakness	Very frequent (99-80%)
HP:0000508	Ptosis	Very frequent (99-80%)
HP:0002015	Dysphagia	Very frequent (99-80%)
HP:0002033	Poor suck	Very frequent (99-80%)
HP:0002882	Sudden episodic apnea	Very frequent (99-80%)
HP:0003473	Fatigable weakness	Very frequent (99-80%)
HP:0003701	Proximal muscle weakness	Very frequent (99-80%)
HP:0004661	Frontalis muscle weakness	Very frequent (99-80%)
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	Very frequent (99-80%)
HP:0011968	Feeding difficulties	Very frequent (99-80%)
HP:0000602	Ophthalmoplegia	Frequent (79-30%)
HP:0000961	Cyanosis	Frequent (79-30%)
HP:0001249	Intellectual disability	Frequent (79-30%)
HP:0001251	Ataxia	Frequent (79-30%)
HP:0001283	Bulbar palsy	Frequent (79-30%)
HP:0001558	Decreased fetal movement	Frequent (79-30%)
HP:0001611	Nasal speech	Frequent (79-30%)
HP:0002205	Recurrent respiratory infections	Frequent (79-30%)
HP:0002355	Difficulty walking	Frequent (79-30%)
HP:0002804	Arthrogryposis multiplex congenita	Frequent (79-30%)
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	Frequent (79-30%)
HP:0003324	Generalized muscle weakness	Frequent (79-30%)
HP:0003388	Easy fatigability	Frequent (79-30%)
HP:0004885	Episodic respiratory distress	Frequent (79-30%)
HP:0008443	Spinal deformities	Frequent (79-30%)
HP:0010536	Central sleep apnea	Frequent (79-30%)
HP:0011469	Nasal regurgitation	Frequent (79-30%)
HP:0030842	Choking episodes	Frequent (79-30%)
HP:0100285	EMG: impaired neuromuscular transmission	Frequent (79-30%)
HP:0100295	Muscle fiber atrophy	Frequent (79-30%)
HP:0000218	High palate	Occasional (29-5%)
HP:0000276	Long face	Occasional (29-5%)
HP:0001250	Seizures	Occasional (29-5%)
HP:0001270	Motor delay	Occasional (29-5%)
HP:0001284	Areflexia	Occasional (29-5%)
HP:0001612	Weak cry	Occasional (29-5%)
HP:0001618	Dysphonia	Occasional (29-5%)
HP:0001761	Pes cavus	Occasional (29-5%)
HP:0002421	Poor head control	Occasional (29-5%)
HP:0002515	Waddling gait	Occasional (29-5%)
HP:0002751	Kyphoscoliosis	Occasional (29-5%)
HP:0003306	Spinal rigidity	Occasional (29-5%)
HP:0003325	Limb-girdle muscle weakness	Occasional (29-5%)
HP:0003458	EMG: myopathic abnormalities	Occasional (29-5%)
HP:0003693	Distal amyotrophy	Occasional (29-5%)
HP:0009053	Distal lower limb muscle weakness	Occasional (29-5%)
HP:0010307	Stridor	Occasional (29-5%)
HP:0011398	Central hypotonia	Occasional (29-5%)
HP:0012801	Narrow jaw	Occasional (29-5%)
HP:0040083	Toe walking	Occasional (29-5%)
HP:0000308	Microretrognathia	Very rare (4-1%)
HP:0000369	Low-set ears	Very rare (4-1%)
HP:0000407	Sensorineural hearing impairment	Very rare (4-1%)
HP:0000565	Esotropia	Very rare (4-1%)
HP:0000639	Nystagmus	Very rare (4-1%)
HP:0000651	Diplopia	Very rare (4-1%)
HP:0000768	Pectus carinatum	Very rare (4-1%)
HP:0001265	Hyporeflexia	Very rare (4-1%)
HP:0001374	Congenital hip dislocation	Very rare (4-1%)
HP:0001388	Joint laxity	Very rare (4-1%)
HP:0001561	Polyhydramnios	Very rare (4-1%)
HP:0002020	Gastroesophageal reflux	Very rare (4-1%)
HP:0002392	EEG with polyspike wave complexes	Very rare (4-1%)
HP:0002870	Obstructive sleep apnea	Very rare (4-1%)
HP:0005943	Respiratory arrest	Very rare (4-1%)
HP:0007178	Motor polyneuropathy	Very rare (4-1%)
HP:0025401	Staring gaze	Very rare (4-1%)
HP:0030208	Acetylcholine receptor antibody positivity	Excluded (0%)

Phenotype(s) retrieved from case reports

Total: 19

HPO ID	Term	# of case reports
HP:0001324	Muscle weakness	4
HP:0002104	Apnea	4
HP:0003198	Myopathy	4
HP:0000508	Ptosis	3
HP:0002878	Respiratory failure	3
HP:0002791	Hypoventilation	2
HP:0000651	Diplopia	1
HP:0000824	Growth hormone deficiency	1
HP:0001319	Neonatal hypotonia	1
HP:0001513	Obesity	1
HP:0001618	Dysphonia	1
HP:0001638	Cardiomyopathy	1
HP:0002098	Respiratory distress	1
HP:0002460	Distal muscle weakness	1
HP:0002486	Myotonia	1
HP:0002650	Scoliosis	1
HP:0003473	Fatigable weakness	1
HP:0012535	Abnormal synaptic transmission	1
HP:0025406	Asthenia	1

Causative gene(s) retrieved from Orphanet

Total: 0

Gene Symbol	Gene Name	Entrez Gene ID