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Myasthenic syndrome, congenital, 22(CMS22)

MedGen UID:
1393545
Concept ID:
C4479088
Disease or Syndrome
Synonyms: CMS22; PREPL DEFICIENCY
 
Gene (location): PREPL (2p21)
 
Monarch Initiative: MONDO:0044299
OMIM®: 616224

Clinical features

From HPO
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Waddling gait
MedGen UID:
66667
Concept ID:
C0231712
Finding
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Tented upper lip vermilion
MedGen UID:
326574
Concept ID:
C1839767
Finding
Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.
Decreased response to growth hormone stimulation test
MedGen UID:
1784655
Concept ID:
C5539399
Finding
Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

Professional guidelines

PubMed

Argov Z
Curr Opin Neurol 2009 Oct;22(5):493-7. doi: 10.1097/WCO.0b013e32832f15fa. PMID: 19593127
Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA
J Neuroimmunol 2008 Sep 15;201-202:6-12. Epub 2008 Aug 15 doi: 10.1016/j.jneuroim.2008.06.026. PMID: 18707767

Recent clinical studies

Etiology

Yoganathan K, Stevenson A, Tahir A, Sadler R, Radunovic A, Malek N
J Neurol 2022 Jun;269(6):3372-3384. Epub 2022 Feb 10 doi: 10.1007/s00415-022-10986-3. PMID: 35142871Free PMC Article
Zhao Y, Li Y, Bian Y, Yao S, Liu P, Yu M, Zhang W, Wang Z, Yuan Y
Ann Clin Transl Neurol 2021 Apr;8(4):898-907. Epub 2021 Mar 23 doi: 10.1002/acn3.51346. PMID: 33756069Free PMC Article
Troha Gergeli A, Neubauer D, Golli T, Butenko T, Loboda T, Maver A, Osredkar D
Eur J Paediatr Neurol 2020 May;26:34-38. Epub 2020 Feb 11 doi: 10.1016/j.ejpn.2020.02.002. PMID: 32070632
Durmus H, Shen XM, Serdaroglu-Oflazer P, Kara B, Parman-Gulsen Y, Ozdemir C, Brengman J, Deymeer F, Engel AG
Neuromuscul Disord 2018 Apr;28(4):315-322. Epub 2017 Nov 28 doi: 10.1016/j.nmd.2017.11.013. PMID: 29395675Free PMC Article
Argov Z
Curr Opin Neurol 2009 Oct;22(5):493-7. doi: 10.1097/WCO.0b013e32832f15fa. PMID: 19593127

Diagnosis

Yoganathan K, Stevenson A, Tahir A, Sadler R, Radunovic A, Malek N
J Neurol 2022 Jun;269(6):3372-3384. Epub 2022 Feb 10 doi: 10.1007/s00415-022-10986-3. PMID: 35142871Free PMC Article
Lorenzoni PJ, Ducci RD, Arndt RC, Hrysay NMC, Fustes OJH, Töpf A, Lochmüller H, Werneck LC, Kay CSK, Scola RH
Arq Neuropsiquiatr 2022 Jan;80(1):69-74. doi: 10.1590/0004-282X-ANP-2020-0575. PMID: 34932651Free PMC Article
Zhao Y, Li Y, Bian Y, Yao S, Liu P, Yu M, Zhang W, Wang Z, Yuan Y
Ann Clin Transl Neurol 2021 Apr;8(4):898-907. Epub 2021 Mar 23 doi: 10.1002/acn3.51346. PMID: 33756069Free PMC Article
Troha Gergeli A, Neubauer D, Golli T, Butenko T, Loboda T, Maver A, Osredkar D
Eur J Paediatr Neurol 2020 May;26:34-38. Epub 2020 Feb 11 doi: 10.1016/j.ejpn.2020.02.002. PMID: 32070632
Luan X, Tian W, Cao L
Clin Neurol Neurosurg 2016 Nov;150:41-45. Epub 2016 Aug 22 doi: 10.1016/j.clineuro.2016.08.021. PMID: 27588369

Therapy

Shao S, Shi G, Bi FF, Huang K
Curr Neuropharmacol 2023;21(7):1594-1605. doi: 10.2174/1570159X21666230126145652. PMID: 36703579
Sadeh M, Shen XM, Engel AG
Muscle Nerve 2011 Aug;44(2):289-91. Epub 2011 Jun 30 doi: 10.1002/mus.22153. PMID: 21721016Free PMC Article
Argov Z
Curr Opin Neurol 2009 Oct;22(5):493-7. doi: 10.1097/WCO.0b013e32832f15fa. PMID: 19593127
Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA
J Neuroimmunol 2008 Sep 15;201-202:6-12. Epub 2008 Aug 15 doi: 10.1016/j.jneuroim.2008.06.026. PMID: 18707767
Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H
Brain 2008 Mar;131(Pt 3):747-59. Epub 2008 Jan 7 doi: 10.1093/brain/awm325. PMID: 18180250

Prognosis

Zhao Y, Li Y, Bian Y, Yao S, Liu P, Yu M, Zhang W, Wang Z, Yuan Y
Ann Clin Transl Neurol 2021 Apr;8(4):898-907. Epub 2021 Mar 23 doi: 10.1002/acn3.51346. PMID: 33756069Free PMC Article
Durmus H, Shen XM, Serdaroglu-Oflazer P, Kara B, Parman-Gulsen Y, Ozdemir C, Brengman J, Deymeer F, Engel AG
Neuromuscul Disord 2018 Apr;28(4):315-322. Epub 2017 Nov 28 doi: 10.1016/j.nmd.2017.11.013. PMID: 29395675Free PMC Article
Luan X, Tian W, Cao L
Clin Neurol Neurosurg 2016 Nov;150:41-45. Epub 2016 Aug 22 doi: 10.1016/j.clineuro.2016.08.021. PMID: 27588369
Wargon I, Richard P, Kuntzer T, Sternberg D, Nafissi S, Gaudon K, Lebail A, Bauche S, Hantaï D, Fournier E, Eymard B, Stojkovic T
Neuromuscul Disord 2012 Apr;22(4):318-24. Epub 2011 Nov 15 doi: 10.1016/j.nmd.2011.09.002. PMID: 22088788
Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H
Brain 2008 Mar;131(Pt 3):747-59. Epub 2008 Jan 7 doi: 10.1093/brain/awm325. PMID: 18180250

Clinical prediction guides

El Kadiri Y, Ratbi I, Sefiani A, Lyahyai J
BMC Neurol 2022 Aug 5;22(1):292. doi: 10.1186/s12883-022-02822-y. PMID: 35932018Free PMC Article
Zhao Y, Li Y, Bian Y, Yao S, Liu P, Yu M, Zhang W, Wang Z, Yuan Y
Ann Clin Transl Neurol 2021 Apr;8(4):898-907. Epub 2021 Mar 23 doi: 10.1002/acn3.51346. PMID: 33756069Free PMC Article
Troha Gergeli A, Neubauer D, Golli T, Butenko T, Loboda T, Maver A, Osredkar D
Eur J Paediatr Neurol 2020 May;26:34-38. Epub 2020 Feb 11 doi: 10.1016/j.ejpn.2020.02.002. PMID: 32070632
Luan X, Tian W, Cao L
Clin Neurol Neurosurg 2016 Nov;150:41-45. Epub 2016 Aug 22 doi: 10.1016/j.clineuro.2016.08.021. PMID: 27588369
Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H
Brain 2008 Mar;131(Pt 3):747-59. Epub 2008 Jan 7 doi: 10.1093/brain/awm325. PMID: 18180250

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