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18 Possible Causes for Bulbar Involvement, Persistent Notochordal Canal

  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    He also developed bulbar involvement and severe scoliosis during childhood.[ncbi.nlm.nih.gov] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel...[deepdyve.com]

  • Lower Motor Neuron Syndrome with Late-Adult Onset

    Bulbar involvement is often mild and occurs late in the disease.[neuroweb.us] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] cause UMN symptoms and signs such as spasticity, weakness and hyperreflexia where the progressive bulbar involvement causes bulbar symptoms such as dysarthria and dysphagia[explainmedicine.com]

  • Familial Recurrent Peripheral Facial Palsy

    Late onset generalized myasthenia gravis presenting with facial weakness and bulbar signs without extraocular muscle involvement .[cambridge.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Bilateral: 90% Abducens nerve palsy, isolated: 9% Conjugate horizontal gaze paresis: 48% Duane retraction syndrome : 34% Congenital fibrosis of extraocular muscles : 9% Bulbar[neuromuscular.wustl.edu]

  • Scapuloperoneal Spinal Muscular Atrophy

    At onset, bilateral foot drop and talipes equinovarus; then in a second phase, the shoulder girdle and finally bulbar involvement may occur.[whonamedit.com] notochordal canal syndrome Sacral agenesis syndrome Sacral meningocele-conotruncal heart defects syndrome Sacral regression syndrome SACRAL syndrome Sacrococcygeal teratoma[orpha.net] Bulbar involvement predisposes the person with spinal muscular atrophy to recurrent aspiration pneumonia, due to weakening of the muscles necessary for efficient swallowing[encyclopedia.com]

  • Limb-Girdle Muscular Dystrophy Type 2J

    Cranial nerve examination to assess for facial, extraocular, or bulbar involvement; note hearing, visual or eye abnormalities.[now.aapmr.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Patients usually will not have hypertrophy of the muscles involved and the symptoms spare ocular and bulbar muscles. Cardiomyopathy is rarely seen.[lecturio.com]

  • Distal Hereditary Motor Neuropathy Type 1

    Sensory impairment is typically not present, and cognition and bulbar function are normal. {ECO:0000269 PubMed:24207122}.[genecards.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course.[genecards.org]

  • Myelocerebellar Disorder

    […] of the skeletal motor neuron system and bulbar palsy.[okayama-u.ac.jp] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Hayashi T, Nagai M, Okamoto M, Nagotani S, Nagano I, Ohmori N, Takehisa Y, Murakami T, Shoji M, Kamiya T, Abe K (2007) Two cases of spinocerebellar ataxia accompanied by involvement[okayama-u.ac.jp]

  • Optic Atrophy-Intellectual Disability Syndrome

    Weak masticatory muscles tire easily, so that food is chewed with difficulty, while bulbar muscle involvement leads to problems with phonation, articulation, and swallowing[britannica.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Patients manifest with ptosis and ophthalmoplegia, easy fatiguability, and facial, bulbar, neck and limb weakness, or respiratory insufficiency.[reviewofophthalmology.com]

  • Nemaline Myopathy

    The distribution of weakness is typically proximal, with variable involvement of the facial, bulbar, and respiratory muscles.[genedx.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] of distal musculature Bulbar and respiratory muscles are frequently affected and may be a presenting feature ( Semin Pediatr Neurol 2011;18:230 ) Patients are at risk for[pathologyoutlines.com]

  • Alpha-B Crystallinopathy

    Typically, patients present with lower limb muscle weakness, which slowly spreads to involve truncal, neck-flexor, facial, bulbar, and respiratory muscles.[medlink.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] bulbar/facial weakness.[emedicine.medscape.com]

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