Univ Fed Sao Paulo UNIFESP, Fellowship Otorrinolaringol Pediat, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Fellowship Laringol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Dept Fonoaudiol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Dept ORL CCP, Sao Paulo, SP, BrazilUniv Nove Julho UNINOVE, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Fellowship Otorrinolaringol Pediat, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Fellowship Laringol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Dept Fonoaudiol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Dept ORL CCP, Sao Paulo, SP, BrazilWeb of Scienc

Hashimoto, Tais Yuri

Maeda, Marilia Yuri

Neves, Luciano Rodrigues

Oliveira Neto, Isabella Christina

Brazilian Journal of Otorhinolaryngology

English

Maeda,Marilia Yuri

Hashimoto,Tais Yuri

Oliveira Neto,Isabella Christina

Neves,Luciano Rodrigues

LAReferencia - Red Federada de Repositorios Institucionales de Publicaciones Científicas Latinoamericanas

Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report

Maeda, Marilia Yuri [UNIFESP]

Hashimoto, Tais Yuri [UNIFESP]

Oliveira Neto, Isabella Christina [UNIFESP]

Neves, Luciano Rodrigues [UNIFESP]

Repositório Institucional UNIFESP

Braz J Otorhinolaryngol. 2017;83(2):235--238www.bjorl.orgBrazilian Journal ofOTORHINOLARYNGOLOGYCASE REPORTOculopharyngeal  muscular  dystrophyor oculopharyngeal  distal myopathy:  case  reportDistrofia  muscular  oculofaríngea  ou  miopatia  oculofaríngea  distal:  relatode casoMarilia Yuri Maedaa,∗, Tais Yuri Hashimotob, Isabella Christina Oliveira Netoc,Luciano Rodrigues Nevesd,ea Universidade  Federal  de  São  Paulo  (UNIFESP),  Fellowship  em  Otorrinolaringologia  Pediátrica,  São  Paulo,  SP,  Brazilb Universidade  Federal  de  São  Paulo  (UNIFESP),  Fellowship  em  Laringologia,  São  Paulo,  SP,  Brazilc Universidade  Federal  de  São  Paulo  (UNIFESP),  Departamento  de  Fonoaudiologia,  São  Paulo,  SP,  Brazild Universidade  Federal  de  São  Paulo  (UNIFESP),  Departamento  de  ORL-CCP,  São  Paulo,  SP,  Brazile Universidade  Nove  de  Julho  (UNINOVE),  São  Paulo,  SP,  Brazil1iwtT(aoplmcmfd(Received  23  June  2015;  accepted  16  July  2015Available  online  5  November  2015IntroductionOculopharyngeal  muscular  dystrophy  (OPMD)  is  a  geneticdisease  with  a  predominantly  autosomal  dominant  pattern,linked  to  the  PABPN1  gene.  OPMD  progresses  with  a  clinicalpicture  of  progressive  ptosis,  dysphagia,  and  weakness  ofthe  proximal  muscles  of  the  limbs.1The  disease  usually  begins  in  the  fifth  or  sixth  decadeof  life.  In  its  recessive  form,  symptoms  have  a  later  onsetare  usually  mild;  in  these  cases  the  diagnosis  becomes  moredifficult,  and  there  may  be  confusion  with  symptoms  of  otherdiseases  associated  with  aging.2 Please cite this article as: Maeda MY, Hashimoto TY, OliveiraNeto IC, Neves LR. Oculopharyngeal muscular dystrophy or ocu-lopharyngeal distal myopathy: case report. Braz J Otorhinolaryngol.2017;83:235--8.∗ Corresponding author.E-mail: mariliayurimaeda@yahoo.com.br (M.Y. Maeda).Peer Review under the responsibility of Associac¸ão Brasileira deOtorrinolaringologia e Cirurgia Cérvico-Facial.abcehttp://dx.doi.org/10.1016/j.bjorl.2015.07.0191808-8694/© 2015 Associac¸a˜o Brasileira de Otorrinolaringologia e Cirurgiaaccess article under the CC BY license (http://creativecommons.org/licA  Canadian  study  estimated  the  prevalence  of  OPMD  at:1000.3 Most  cases  reported  in  the  literature  present  a  fam-ly  history  of  neuromuscular  disease,  but  there  are  rare  caseshere  it  was  not  possible  to  establish  this  association,  andhe  appropriate  explanation  is  the  occurrence  of  mutation.1he  literature  describes  oculopharyngeal  distal  myopathyOPDM)  as  a  controversial  entity:  it  is  considered  by  somes  a  distinct  disorder  from  OPMD,  and  by  others  as  a  variantf  this  disease.4Thevathasan  et  al.  report  that  early-onset  ophthalmo-aresis  is  a  frequent  finding  in  OPDM.  The  involvement  ofimb  muscles  initially  occurs  distally,  and  tibialis  anterioruscle  and  intrinsic  muscles  of  the  hands  are  the  mostommonly  affected.  Lu  et  al.  add  that,  in  OPMD,  the  sympto-atology  begins  most  often  in  young  adults,  with  a  severeacial  muscle  weakness.To  carry  out  a  proper  investigation  of  OPMD  and  itsifferentiation  from  a  variety  of  differential  diagnosesmitochondrial  disorders,  Nonaka  myopathy,  and  OPDM,mong  others),  it  is  critical  to  perform  tests  such  as  anti-ody  anti-acetylcholine  receptor  dosage,  serum  lactateurve,  electromyography,  muscle  biopsy,  and  genetic  testingvaluation.4 Ce´rvico-Facial. Published by Elsevier Editora Ltda. This is an openenses/by/4.0/).2 Maeda  MY  et  al.OiiordmswdpteodmefmewbnfCAbraOmmipflif(apr(wloawpand  amounts  (liquid,  paste,  and  solid)  detected  a  moderateoropharyngeal  dysphagia  with  no  visualization  of  pene-tration  or  food  aspiration.  Drooling  caused  by  difficultyswallowing  was  also  noted.36  The  histopathological  findings  of  both  diseases  (OPMD  andPDM)  include  nonspecific  dystrophic  myopathic  abnormal-ties  and  the  presence  of  vacuoles  and  tubular-filamentousntramuscular  nuclear  inclusions;  the  latter  is  larger  in  casesf  OPDM  (>8  nm).5Genetic  tests  showed  that  in  patients  with  OPDM,  aepeating  pattern  of  base  pairs  (‘‘GCG’’)  in  PABPN1  geneoes  not  occur  --  a  finding  present  in  cases  of  OPMD.4Among  the  muscle  changes  detected,  dysphagia  is  theost  concerning  symptom,  because  it  evidences  a  progres-ive  weakening  of  the  esophageal  and  pharyngeal  muscles,hich  are  responsible  for  the  swallowing  process.  Theegree  of  dysphagia  presented  by  the  patient  is  an  importantrognostic  factor  of  the  disease,  as  these  patients  progresso  malnutrition.6The  curative  treatment  of  OPMD  is  still  unknown.  How-ver,  medical  or  surgical  treatments  can  be  carried  out  inrder  to  improve  the  patient’s  quality  of  life.In  the  case  of  dysphagia,  it  is  feasible  to  intro-uce  changes  in  food  consistency,  as  well  as  facilitatinganeuvers  and  speech  therapy  for  swallowing.  When  thestablished  therapy  no  longer  appears  to  be  effective,  or  inace  of  a  significant  weight  loss  or  recurrent  aspiration  pneu-onia,  there  may  be  an  indication  for  surgical  treatment,.g.,  cricopharyngeal  myotomy  or  even  gastrostomy.6This  study  aimed  to  report  a  clinical  case  of  a  patientith  significant  muscle  disorder  and  with  a  deltoid  muscleiopsy  compatible  with  OPMD.  However,  despite  the  diag-ostic  efforts,  it  was  not  possible  to  distinguish  this  diseaserom  OPDM.ase reportRS,  62-years  old  retired  male,  was  assessed  at  this  serviceecause  of  complaints  of  long-time  progressive  dysphagia.The  patient  reported  the  onset  of  progressive  symmet-ical  ptosis  at  the  age  of  36  years.  He  was  then  evaluatednd  diagnosed  with  neuromuscular  disease  compatible  withPMD  or  OPDM  (presence  of  rimmed  vacuoles  at  the  deltoiduscle  biopsy  material).The  patient  was  referred  to  the  Department  of  Ophthal-ology  for  surgery,  aiming  at  a  frontal  suspension  of  his  eyes,n  order  to  facilitate  the  vision.At  52  years  of  age,  the  patient  reported  the  onset  of  dys-hagia  (choking  on  solid  foods,  need  to  clear  his  throat,  anduid  intake  after  food  intake).  He  also  mentioned  increas-ng  difficulty  in  speaking  and  moving  the  muscles  of  theace  and  eyes,  and  reported  the  progression  of  symptomsFigs.  1  and  2).At  age  57  years,  the  patient  had  trouble  raising  his  rightrm  and  also  opening  his  right  hand,  which  was  in  a  ‘‘claw’’osition,  in  addition  to  a  general  weakness  of  his  legs  thatesulted  in  several  falls  (Fig.  3).At  that  time,  the  patient  said  that  his  lips  began  to  ‘‘fall’’sic),  along  with  possible  episodes  of  urinary  incontinence.Since  the  onset  of  symptoms,  the  patient  reported  aeight  loss  of  around  13  kg  and  two  episodes  of  pneumonia.Family  history  revealed  that  the  patient  has  seven  sib-ings,  two  of  whom  have  bilateral  ptosis  (one  sister  withnset  of  ptosis  at  age  69  years  and  one  brother  with  onsetFigure  1  Patient’s  front  view.t  age  74  years).  One  of  his  four  children  has  bilateral  ptosis,hich  began  at  age  37  years.The  patient  was  assessed  regarding  his  dysphagia  com-laints.Swallowing  endoscopy  with  the  use  of  various  food  typesFigure  2  Patient’s  lateral  view.Oculopharyngeal  muscular  dystrophy  or  oculopharyngeal  distal  myopathy:  case  report  237Fiaeeamndmdfttsiramechanisms  for  correction  of  ptosis,  which  has  a  negativeeffect  on  swallowing,  worsening  a  pre-existing  dysphagia.  Aslight  bending  of  the  head  can  improve  the  oropharyngealFigure  3  Claw  hand.The  patient  was  treated  with  speech  therapy  for  degluti-tion,  and  botulinum  toxin  was  applied  in  his  salivary  glandsto  reduce  saliva  production.DiscussionDespite  controversies  in  the  literature,  van  der  Sluijs  et  al.reported  in  their  article  the  main  clinical  features  of  OPMD7:a  slowly  progressive  bilateral  ptosis,  weakness  of  proximallimbs,  and  progressive  dysphagia.These  authors  report  that  the  abovementioned  findingshave  a  late  onset;  while  in  OPDM,  the  onset  of  symptomsoccurs  earlier  (between  15  and  20  years  of  age),  with  aninitial  manifestation  of  tibialis  anterior  muscle  weakness,or  of  bilateral  ptosis.7They  also  report  that,  in  these  patients,  an  intense  hypo-tonia  of  the  muscles  of  the  face  and  of  the  extrinsic  musclesof  the  eyes  is  noteworthy,  which  results  in  ptosis  and  limi-tation  of  ocular  and  facial  movements,  with  a  more  severeand  earlier  occurrence  than  in  cases  of  OPMD.7Minami  et  al.8 discussed  case  reports  of  OPMD  withinvolvement  of  distal  muscles  in  the  literature;  theseauthors  reported  that  it  would  be  extremely  difficult  to  dis-tinguish  OPMD  from  OPDM  by  simply  analyzing  the  clinicalfeatures.In  that  study,  after  an  evaluation  of  PABPN1  gene,  theauthors  obtained  results  regarding  the  presence  of  repeti-tions  of  the  base  pairs  ‘GCG’  present  in  OPMD.8In  the  clinical  picture  discussed  in  the  present  study,ptosis  started  at  a  young  age  (at  36  years  of  age).  Fur-thermore,  the  patient  showed  muscle  alterations  in  theface,  extrinsic  muscles  of  the  eyes,  right  hand,  and  lowerlimbs.Together  with  dysphagia,  these  signs  and  symptoms  indi-cate  a  possible  diagnosis  of  OPDM.  However,  the  proximalmuscles  (scapular  and  pelvic  girdles)  were  affected,  whichmakes  the  diagnosis  of  OPMD  possible.A  deltoid  muscle  biopsy  allowed  detection  of  atrophicpolygonal  muscle  fibers  and  of  intrasarcoplasmic  rimmedvacuoles.  The  presence  of  rimmed  vacuoles  is  characteris-tic  of  both  diseases;  thus,  it  is  not  possible  to  differentiatebetween  OPMD  and  OPDM  (Figs.  4  and  5).Fvigure  4  Rimmed  vacuoles  at  the  deltoid  muscle  biopsy  (mod-fied Gomori  stain,  350×).Unfortunately,  genetic  testing  to  aid  in  diagnosis  is  notvailable  at  this  service.  As  already  foreseen  by  Minamit  al.,8 it  was  not  possible  to  differentiate  these  two  dis-ases  (OPMD  and  OPDM)  based  on  the  clinical  informationvailable.Progressive  dysphagia  is  seen  in  both  diseases,  and  itay  become  severe  and  cause  frequent  aspiration  pneumo-ia.  Because  this  patient  exhibited  moderate  oropharyngealysphagia  with  drooling,  the  authors  enacted  a  clinicalanagement  protocol  that  included:  speech  therapy  foreglutition;  exercises  to  improve  oral  motor  skills;  change  inood  consistency;  and  chemical  xerostomia  with  botulinumoxin  application.To  date,  there  is  no  treatment  for  both  diseases;  thus,herapy  should  focus  on  the  correction  of  any  deficits  pre-ented,  aiming  at  a  better  quality  of  life.In  addition  to  improving  the  dynamics  of  deglutition,  thentroduction  of  speech  therapy  for  deglutition  aimed  to  cor-ect  unwanted  postures.  Both  the  retroflexion  of  the  headnd  frontal  muscle  contraction  are  known  compensatoryigure  5  Presence  of  polygonal  muscular  atrophy  and  rimmedacuoles  (hematoxylin--eosin  stain,  350×).2paafuCIatCTR1234567838  hase  of  swallowing,  reducing  the  meal  time,  the  waste,nd  the  risk  of  aspiration.9The  use  of  botulinum  toxin  in  this  patient’s  salivary  glandsimed  to  decrease  saliva  production,  resulting  in  less  volumeor  swallowing.  To  date,  this  patient  is  still  being  followed-p  for  his  dysphagia.onclusionn  this  study,  the  authors  presented  and  described  a  case  of rare  neuromuscular  disease,  with  an  important  impact  onhe  swallowing  process.onflicts of interesthe  authors  declare  no  conflicts  of  interest.eferences. Tremolizzo L, Galbussera A, Tagliabue E, Fermi S, Bruttini M,Lamperti C, et al. An apparently sporadic case of oculopha-ryngeal muscular dystrophy: the first Italian report. Neurol Sci.2007;28:339--41.9Maeda  MY  et  al.. Hebbar S, Webberley MJ, Lunt P, Robinson DO. Siblings with reces-sive oculopharyngeal muscular dystrophy. Neuromuscul Disord.2007;17:254--7.. Codere F, Brais B, Rouleau G, Lafontaine E. Oculopharyngeal mus-cular dystrophy: what’s new? Orbit. 2001:259--66.. Lu H, Luan X, Yuan Y, Dong M, Sun W,  Yan C. The clinical andmyopathological features of oculopharyngodistal myopathy inChinese family. Neuropathology. 2008;28:599--603.. Thevathasan E, Squier W, MacIver DH, Hilton DA, FathersE, Hilton-Jones D. Oculopharyngodistal myopathy -- a pos-sible association with cardiomyopathy. Neuromuscul Disord.2011;21:121--5.. Pellerin HG, NicoTrépanier CA, Lessard MR. Postoperativecomplications in patients with oculopharyngeal muscular dystro-phy: a retrospective study. Can J Anesth. 2007;54:361--5.. van der Sluijs BM, ter Laak HJ, Scheffer H, van der Maarel SM, vanEngelen BGM. Autosomal recessive oculopharyngodistal myopa-thy: a distinct phenotypical, histological, and genetic entity. JNeurol Neurosurg Psychiatry. 2004;75:1499--501.. Minami N, Ikezoe K, Kuroda H, Nakabayahi H, Satoyoshi E, Non-aka I. Oculopharyngeal myopathy is genetically heterogeneousand most cases are distinct from oculopharyngeal muscular dys-trophy. Neuromuscul Disord. 2001;11:699--702.. de Swart BJ, van der Sluijs BM, Vos AM, Kalf JG, Knuijt S,Cruysberg JR, et al. Ptosis aggravates dysphagia in oculopha-ryngeal muscular dystrophy. J Neural Neurosurg Psychiatry.2006;77:266--8.

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Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report

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