Congenital Suprabulbar Paresis

Genetics of the polymicrogyria syndromes

“…48 The congenital form of BPP was first described by Worster-Drought as congenital suprabulbar paresis. 49 Since the introduction of MRI, BPP has been demonstrated in several cases of familial Worster-Drought syndrome. 50 The BPP phenotype could also be confounded with a syndrome of specific language impairment called ''speech and language disorder with orofacial dyspraxia'' or ''developmental verbal dyspraxia.''…”

Classification of Phenotype Characteristics in Adult-Onset Spinal Muscular Atrophy

“…Two of our patients showed dysphagia at disease onset as a result of bulbar manifestation (group 3b). Due to the fact that disease forms with predominant bulbar [1,2,3] and spinobulbar [4] manifestations are known, the term ‘spinal muscular atrophy’ should be consistently replaced by ‘lower motor neuron disease (LMND)’. Nevertheless, the proposed classification should also be used in juvenile forms of LMND.…”

“…Subtypes with predominant bulbar, spinal, or spinobulbar manifestations are well-known [1,2,3,4]. Besides the progressive muscular weakness and atrophy, different disease milestones (e.g.…”

Sucking and swallowing difficulties in infancy: diagnostic problem of dysphagia.

“…The principal papers on the more serious form of palatal palsy, which apparently does not recover in the early months, are those by Cohen (1955), Worster-Drought (1956), Graham (1964), and Ardran et al (1965). Cohen (1955), in his paper on congenital dysphagia, described five groups of cases: (a) cortical atrophy, hypoplasia, or agenesis (3 cases: one with spastic quadriplegia, one mentally defective child with isolated bulbar palsy, one defective child with paralysis of the cervical sympathetic and an anomalous right subclavian artery); (b) familial autonomic dysfunction (Riley, 1957, 2 cases); (c) familial paralysis of palate (1 case); (d) amyotonia congenita (1 case); (e) neurogenic oesophageal dysfunction (6 cases: cardiospasm, short oesophagus with spasm, Pierre Robin syndrome with chalasia, tracheo-oesophageal fistula, short oesophagus with hiatus hernia, and a child with atresia of the right ear, paralysis of the facial nerve, inspiratory stridor, hoarseness, and an oesophageal pouch).…”