Mobius syndrome: Difference between revisions

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== Historical Perspective: ==
Moebius syndrome (MS) is a rare congenital neurological condition that affects the muscle in


the face and eye from birth. patients of this disease face problem in mouth moment including
smiling, chewing and eye moment is also affected particularly sideways eye moments, except
these facial issues problems with other body parts is also observed. A. Von Graefe, describe the
first case of MS later detailed report about the condition and name was put forward by Paul
Julius Moebius in 1888<ref name="pmidPMID: 37868706">{{cite journal|author=Monawwer SA, Ali S, Naeem R, Ali SH, Rabbani A, Khan M|display-authors=etal|title=Moebius Syndrome: An Updated Review of Literature.|journal=Child Neurol Open|year=2023|volume=10|issue=|pages=2329048X231205405|pmid=PMID: 37868706|doi=10.1177/2329048X231205405|pmc=10588417|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=37868706}}</ref>
== Pathophysiology: ==
Patients with MS shows symptoms of paralysis of that facial nerve (CN VII) in about 96% of
cases leading difficulties with facial movement such as swallowing, sucking, speaking and
making facial expressions . Additionally eye movement nerve paralysis (CN VI) in approximately
85% of the cases resulting in problem with eye movement, dry eyes and various patterns of
eyes abnormalities are observed that can help in understanding the physiological type of nerve
damage. MS can cause with bone and muscular issues like [[club foot]], fuse fingers and toes
curved spines condition like [[kyphosis]] and and [[scoliosis]]<ref name="pmidPMID: 27260152.">{{cite journal|author=Picciolini O, Porro M, Cattaneo E, Castelletti S, Masera G, Mosca F|display-authors=etal|title=Moebius syndrome: clinical features, diagnosis, management and early intervention.|journal=Ital J Pediatr|year=2016|volume=42|issue=1|pages=56|pmid=PMID: 27260152.|doi=10.1186/s13052-016-0256-5|pmc=4893276|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27260152}}</ref>The exact
pathophysiology of the disease is not clear; theories suggest that both genetic and
environmental factors n may contribute to the development of the diseases affecting the baby
before birth. It is considered that around the sixth week of pregnancy, the fetus may not
receive enough oxygen supply to the brainstem, possibly and this due to blood flow problem in
subclavian artery such as blood clot or narrowing of vessels. This may be linked to the used of
certain drugs during pregnancy like misoprostolor or cocaine. The abnormal flow of blood could
affect parts of the brain causing tissue damage, scarring and calcium buildup. However, the
specific impact of blood flow on the subclavian artery and its effect on the facial and abducens
nerves in MS is not fully understood PMID: 15253055(3).Other factor that could contribute to
this disease is genetic it has been suggest that MS may be linked to abnormalities in two
specific loci of chromosomes 3 and 10 and some cases of MS shows de-novo mutation in
gene associated with the facial muscle weakness such as REV3L and PLXND1 <ref name="pmidPMID: 28061881">{{cite journal|author=Pedersen LK, Maimburg RD, Hertz JM, Gjørup H, Pedersen TK, Møller-Madsen B|display-authors=etal|title=Moebius sequence -a multidisciplinary clinical approach.|journal=Orphanet J Rare Dis|year=2017|volume=12|issue=1|pages=4|pmid=PMID: 28061881|doi=10.1186/s13023-016-0559-z|pmc=5217236|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28061881}}</ref>.Other less common gene implicated in MS includes HOXA1, HOXB1, and TUBB3, In very few cases diseases appear to be inherited passed down from generation to generation.<ref name="pmidPMID: 20074521">{{cite journal|author=Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W|display-authors=etal|title=Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.|journal=Cell|year=2010|volume=140|issue=1|pages=74-87|pmid=PMID: 20074521|doi=10.1016/j.cell.2009.12.011|pmc=3164117|url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20074521}}</ref>

Revision as of 09:24, 14 September 2024

Historical Perspective:

Moebius syndrome (MS) is a rare congenital neurological condition that affects the muscle in

the face and eye from birth. patients of this disease face problem in mouth moment including

smiling, chewing and eye moment is also affected particularly sideways eye moments, except

these facial issues problems with other body parts is also observed. A. Von Graefe, describe the

first case of MS later detailed report about the condition and name was put forward by Paul

Julius Moebius in 1888[1]

Pathophysiology:

Patients with MS shows symptoms of paralysis of that facial nerve (CN VII) in about 96% of

cases leading difficulties with facial movement such as swallowing, sucking, speaking and

making facial expressions . Additionally eye movement nerve paralysis (CN VI) in approximately

85% of the cases resulting in problem with eye movement, dry eyes and various patterns of

eyes abnormalities are observed that can help in understanding the physiological type of nerve

damage. MS can cause with bone and muscular issues like club foot, fuse fingers and toes

curved spines condition like kyphosis and and scoliosis[2]The exact

pathophysiology of the disease is not clear; theories suggest that both genetic and

environmental factors n may contribute to the development of the diseases affecting the baby

before birth. It is considered that around the sixth week of pregnancy, the fetus may not

receive enough oxygen supply to the brainstem, possibly and this due to blood flow problem in

subclavian artery such as blood clot or narrowing of vessels. This may be linked to the used of

certain drugs during pregnancy like misoprostolor or cocaine. The abnormal flow of blood could

affect parts of the brain causing tissue damage, scarring and calcium buildup. However, the

specific impact of blood flow on the subclavian artery and its effect on the facial and abducens

nerves in MS is not fully understood PMID: 15253055(3).Other factor that could contribute to

this disease is genetic it has been suggest that MS may be linked to abnormalities in two

specific loci of chromosomes 3 and 10 and some cases of MS shows de-novo mutation in

gene associated with the facial muscle weakness such as REV3L and PLXND1 [3].Other less common gene implicated in MS includes HOXA1, HOXB1, and TUBB3, In very few cases diseases appear to be inherited passed down from generation to generation.[4]

  1. ↑ Monawwer SA, Ali S, Naeem R, Ali SH, Rabbani A, Khan M; et al. (2023). "Moebius Syndrome: An Updated Review of Literature". Child Neurol Open. 10: 2329048X231205405. doi:10.1177/2329048X231205405. PMC 10588417 Check |pmc= value (help). PMID 37868706 PMID: 37868706 Check |pmid= value (help).
  2. ↑ Picciolini O, Porro M, Cattaneo E, Castelletti S, Masera G, Mosca F; et al. (2016). "Moebius syndrome: clinical features, diagnosis, management and early intervention". Ital J Pediatr. 42 (1): 56. doi:10.1186/s13052-016-0256-5. PMC 4893276. PMID 27260152. PMID: 27260152. Check |pmid= value (help).
  3. ↑ Pedersen LK, Maimburg RD, Hertz JM, Gjørup H, Pedersen TK, Møller-Madsen B; et al. (2017). "Moebius sequence -a multidisciplinary clinical approach". Orphanet J Rare Dis. 12 (1): 4. doi:10.1186/s13023-016-0559-z. PMC 5217236. PMID 28061881 PMID: 28061881 Check |pmid= value (help).
  4. ↑ Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W; et al. (2010). "Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance". Cell. 140 (1): 74–87. doi:10.1016/j.cell.2009.12.011. PMC 3164117. PMID 20074521 PMID: 20074521 Check |pmid= value (help).
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