Neuromuscular

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EOM ± PERIOCULAR WEAKNESS in NEUROMUSCULAR DISORDERS


EOM in Myasthenia Gravis
Pseudo-Internuclear Ophthalmoplegia
  

CONGENITAL & HEREDITARY OPHTHALMOPLEGIAS

Congenital Later onset


Oculopharyngeal Muscular Dystrophy

  l Polyadenylate-binding protein, Nuclear, 1 (PABN1; PABP2) ; Chromosome 14q11.2-q13; Dominant & Recessive
  l Second locus in non-French-Canadian (Italian & Norman) families

Oculopharyngodistal myopathy

  l Autosomal Dominant or Recessive

Hereditary inclusion body myopathy with Joint Contractures & Ophthalmoplegia (IBM3)1

  l Myosin heavy chain IIa (MyHC IIa) ; Chromosome 17p13.1; Dominant

Early-onset Myopathy with External ophthalmoplegia4

  l Chromosome 17p13.1-p12; Recessive
Return to Myopathy & NMJ Index

References
1. Ann Neurol 1998;44:242-248; PNAS 2000;97:14614-14619
2. Brain 2001;124:522-526
3. JNNP 2004;75:1499-1501
4. Brain 2005;128:42-51

10/26/2007