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MedGen (Bookshelf cited) for PubMed (Select 11231638)

Items: 6

1.

CHRNA1-Related Congenital Myasthenic Syndrome

Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e.g., ocular, bulbar, limb muscles) with onset at or shortly after birth or in early childhood; rarely, symptoms may not manifest until later in childhood. Cardiac and smooth muscle are not involved. Severity and course of disease are highly variable, ranging from minor symptoms to progressive disabling weakness. In some subtypes of CMS, myasthenic symptoms may be mild, but sudden severe exacerbations of weakness or even sudden episodes of respiratory insufficiency may be precipitated by fever, infections, or excitement. Major findings of the neonatal onset subtype include: feeding difficulties; poor suck and cry; choking spells; eyelid ptosis; facial, bulbar, and generalized weakness. In addition arthrogryposis multiplex congenital may be present; respiratory insufficiency with sudden apnea and cyanosis may occur. Later childhood onset subtypes show abnormal muscle fatigability with difficulty in activities such as running or climbing stairs; motor milestones may be delayed; fluctuating eyelid ptosis and fixed or fluctuating extraocular muscle weakness are common presentations. [from GeneReviews]

MedGen UID:
468519
Concept ID:
CN119608
Disease or Syndrome
2.

Myasthenia, limb-girdle, familial

Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e.g., ocular, bulbar, limb muscles) with onset at or shortly after birth or in early childhood; rarely, symptoms may not manifest until later in childhood. Cardiac and smooth muscle are not involved. Severity and course of disease are highly variable, ranging from minor symptoms to progressive disabling weakness. In some subtypes of CMS, myasthenic symptoms may be mild, but sudden severe exacerbations of weakness or even sudden episodes of respiratory insufficiency may be precipitated by fever, infections, or excitement. Major findings of the neonatal onset subtype include: feeding difficulties; poor suck and cry; choking spells; eyelid ptosis; facial, bulbar, and generalized weakness. In addition arthrogryposis multiplex congenital may be present; respiratory insufficiency with sudden apnea and cyanosis may occur. Later childhood onset subtypes show abnormal muscle fatigability with difficulty in activities such as running or climbing stairs; motor milestones may be delayed; fluctuating eyelid ptosis and fixed or fluctuating extraocular muscle weakness are common presentations. [from GeneReviews]

MedGen UID:
376880
Concept ID:
C1850792
Disease or Syndrome
3.

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency

Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e.g., ocular, bulbar, limb muscles) with onset at or shortly after birth or in early childhood; rarely, symptoms may not manifest until later in childhood. Cardiac and smooth muscle are not involved. Severity and course of disease are highly variable, ranging from minor symptoms to progressive disabling weakness. In some subtypes of CMS, myasthenic symptoms may be mild, but sudden severe exacerbations of weakness or even sudden episodes of respiratory insufficiency may be precipitated by fever, infections, or excitement. Major findings of the neonatal onset subtype include: feeding difficulties; poor suck and cry; choking spells; eyelid ptosis; facial, bulbar, and generalized weakness. In addition arthrogryposis multiplex congenital may be present; respiratory insufficiency with sudden apnea and cyanosis may occur. Later childhood onset subtypes show abnormal muscle fatigability with difficulty in activities such as running or climbing stairs; motor milestones may be delayed; fluctuating eyelid ptosis and fixed or fluctuating extraocular muscle weakness are common presentations. [from GeneReviews]

MedGen UID:
373251
Concept ID:
C1837091
Disease or Syndrome
4.

Myasthenic syndrome, slow-channel congenital

Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e.g., ocular, bulbar, limb muscles) with onset at or shortly after birth or in early childhood; rarely, symptoms may not manifest until later in childhood. Cardiac and smooth muscle are not involved. Severity and course of disease are highly variable, ranging from minor symptoms to progressive disabling weakness. In some subtypes of CMS, myasthenic symptoms may be mild, but sudden severe exacerbations of weakness or even sudden episodes of respiratory insufficiency may be precipitated by fever, infections, or excitement. Major findings of the neonatal onset subtype include: feeding difficulties; poor suck and cry; choking spells; eyelid ptosis; facial, bulbar, and generalized weakness. In addition arthrogryposis multiplex congenital may be present; respiratory insufficiency with sudden apnea and cyanosis may occur. Later childhood onset subtypes show abnormal muscle fatigability with difficulty in activities such as running or climbing stairs; motor milestones may be delayed; fluctuating eyelid ptosis and fixed or fluctuating extraocular muscle weakness are common presentations. [from GeneReviews]

MedGen UID:
199759
Concept ID:
C0751885
Disease or Syndrome
5.

Congenital myasthenic syndrome

Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e.g., ocular, bulbar, limb muscles) with onset at or shortly after birth or in early childhood; rarely, symptoms may not manifest until later in childhood. Cardiac and smooth muscle are not involved. Severity and course of disease are highly variable, ranging from minor symptoms to progressive disabling weakness. In some subtypes of CMS, myasthenic symptoms may be mild, but sudden severe exacerbations of weakness or even sudden episodes of respiratory insufficiency may be precipitated by fever, infections, or excitement. Major findings of the neonatal onset subtype include: feeding difficulties; poor suck and cry; choking spells; eyelid ptosis; facial, bulbar, and generalized weakness. In addition arthrogryposis multiplex congenital may be present; respiratory insufficiency with sudden apnea and cyanosis may occur. Later childhood onset subtypes show abnormal muscle fatigability with difficulty in activities such as running or climbing stairs; motor milestones may be delayed; fluctuating eyelid ptosis and fixed or fluctuating extraocular muscle weakness are common presentations. [from GeneReviews]

MedGen UID:
155650
Concept ID:
C0751882
Disease or Syndrome
6.

Familial infantile myasthenia

Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e.g., ocular, bulbar, limb muscles) with onset at or shortly after birth or in early childhood; rarely, symptoms may not manifest until later in childhood. Cardiac and smooth muscle are not involved. Severity and course of disease are highly variable, ranging from minor symptoms to progressive disabling weakness. In some subtypes of CMS, myasthenic symptoms may be mild, but sudden severe exacerbations of weakness or even sudden episodes of respiratory insufficiency may be precipitated by fever, infections, or excitement. Major findings of the neonatal onset subtype include: feeding difficulties; poor suck and cry; choking spells; eyelid ptosis; facial, bulbar, and generalized weakness. In addition arthrogryposis multiplex congenital may be present; respiratory insufficiency with sudden apnea and cyanosis may occur. Later childhood onset subtypes show abnormal muscle fatigability with difficulty in activities such as running or climbing stairs; motor milestones may be delayed; fluctuating eyelid ptosis and fixed or fluctuating extraocular muscle weakness are common presentations. [from GeneReviews]

MedGen UID:
140751
Concept ID:
C0393929
Disease or Syndrome
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