Neuromuscular

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EOM ± PERIOCULAR WEAKNESS in NEUROMUSCULAR DISORDERS


EOM in Myasthenia Gravis
Pseudo-Internuclear Ophthalmoplegia
  

CONGENITAL & HEREDITARY OPHTHALMOPLEGIAS

Congenital Later onset Also see


Oculopharyngeal Muscular Dystrophy 5

  Polyadenylate-binding protein, Nuclear, 1 (PABPN1; PABN1; PABP2) ; Chromosome 14q11.2; Dominant or Recessive

Other locus
  HNRNPA2B1
Differential diagnosis

Oculopharyngodistal Myopathies (OPDM)

OPDM1: LRP12
OPDM2: GIPC1
OPDM3 + Neurological: NOTCH2NLC
OPDM4: RILPL1
Also see
  OPMD
  OPML1
  DNA repeat disorders

Oculopharyngodistal Myopathy 1 (OPDM1) 6

  Low density lipoprotein receptor-related protein 12 (LRP12) ; Chromosome 8q22.3; Dominant or Sporadic

Oculopharyngodistal Myopathy 2 (OPDM2) 7

  GIPC PDZ Domain-containing family, member 1 (GIPC1) ; Chromosome 19p13.12; Dominant or Sporadic

Oculopharyngodistal Myopathy 4 (OPDM4) 9

  RAB-Interacting lysosomal protein-like 1 (RILPL1; Gospel) ; Chromosome 12q24.31; Dominant or Sporadic

Oculopharyngeal Myopathy with Leukodystrophy (OPML1) 6

  LOC642361 /NUTM2B-AS1 ; Chromosome 10q22.3; Dominant

Hereditary Inclusion Body Myopathy with Joint Contractures & Ophthalmoplegia (IBM3; MYPOP) 1

  Myosin heavy chain IIa (MyHC IIa; MYH2) ; Chromosome 17p13.1; Dominant or 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, Neurology 2011;76:227–235
4. Neurology 2010;74 (9 Supp 2)
5. FEBS J 2013 Sep;280(17):4230-50, Neuromuscular Disorders 2015; Online August
6. Nat Genet 2019 Jul 22
7. Am J Hum Genet 2020 May 10, Brain 2020 Dec 29
8. Neuromuscul Disord 2018;28:675-679, Mol Genet Genomic Med 2020:e1320
9. Am J Hum Genet 2022 Feb 5

3/4/2022