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Mitchell syndrome(MITCH)

MedGen UID:
1714342
•Concept ID:
C5394554
•
Disease or Syndrome
Synonyms: MITCH; MITCHELL SYNDROME
SNOMED CT: Mitchell syndrome (1300194008)
 
Gene (location): ACOX1 (17q25.1)
 
Monarch Initiative: MONDO:0030073
OMIM®: 618960

Definition

Mitchell syndrome (MITCH) is a progressive disorder characterized by episodic demyelination, sensorimotor polyneuropathy, and hearing loss (Chung et al., 2020). [from OMIM]

Clinical features

From HPO
Limb muscle weakness
MedGen UID:
107956
•Concept ID:
C0587246
•
Finding
Reduced strength and weakness of the muscles of the arms and legs.
See: Feature record | Search on this feature
Hyporeflexia of upper limbs
MedGen UID:
323007
•Concept ID:
C1836835
•
Finding
Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.
See: Feature record | Search on this feature
Areflexia of lower limbs
MedGen UID:
347285
•Concept ID:
C1856694
•
Finding
Inability to elicit tendon reflexes in the lower limbs.
See: Feature record | Search on this feature
Dysphagia
MedGen UID:
41440
•Concept ID:
C0011168
•
Disease or Syndrome
Difficulty in swallowing.
See: Feature record | Search on this feature
Abnormal autonomic nervous system physiology
MedGen UID:
8511
•Concept ID:
C0013363
•
Disease or Syndrome
A functional abnormality of the autonomic nervous system.
See: Feature record | Search on this feature
Seizure
MedGen UID:
20693
•Concept ID:
C0036572
•
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
See: Feature record | Search on this feature
Encephalopathy
MedGen UID:
39314
•Concept ID:
C0085584
•
Disease or Syndrome
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
See: Feature record | Search on this feature
Clumsiness
MedGen UID:
66690
•Concept ID:
C0233844
•
Sign or Symptom
Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.
See: Feature record | Search on this feature
Gait disturbance
MedGen UID:
107895
•Concept ID:
C0575081
•
Finding
The term gait disturbance can refer to any disruption of the ability to walk.
See: Feature record | Search on this feature
Abnormal cerebral white matter morphology
MedGen UID:
181756
•Concept ID:
C0948163
•
Pathologic Function
An abnormality of the cerebral white matter.
See: Feature record | Search on this feature
Sensory axonal neuropathy
MedGen UID:
334116
•Concept ID:
C1842587
•
Finding
An axonal neuropathy of peripheral sensory nerves.
See: Feature record | Search on this feature
Absent speech
MedGen UID:
340737
•Concept ID:
C1854882
•
Finding
Complete lack of development of speech and language abilities.
See: Feature record | Search on this feature
Respiratory insufficiency due to muscle weakness
MedGen UID:
812797
•Concept ID:
C3806467
•
Finding
See: Feature record | Search on this feature
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Professional guidelines

PubMed

International Consensus Statement on Obstructive Sleep Apnea.
Chang JL, Goldberg AN, Alt JA, Mohammed A, Ashbrook L, Auckley D, Ayappa I, Bakhtiar H, Barrera JE, Bartley BL, Billings ME, Boon MS, Bosschieter P, Braverman I, Brodie K, Cabrera-Muffly C, Caesar R, Cahali MB, Cai Y, Cao M, Capasso R, Caples SM, Chahine LM, Chang CP, Chang KW, Chaudhary N, Cheong CSJ, Chowdhuri S, Cistulli PA, Claman D, Collen J, Coughlin KC, Creamer J, Davis EM, Dupuy-McCauley KL, Durr ML, Dutt M, Ali ME, Elkassabany NM, Epstein LJ, Fiala JA, Freedman N, Gill K, Gillespie MB, Golisch L, Gooneratne N, Gottlieb DJ, Green KK, Gulati A, Gurubhagavatula I, Hayward N, Hoff PT, Hoffmann OMG, Holfinger SJ, Hsia J, Huntley C, Huoh KC, Huyett P, Inala S, Ishman SL, Jella TK, Jobanputra AM, Johnson AP, Junna MR, Kado JT, Kaffenberger TM, Kapur VK, Kezirian EJ, Khan M, Kirsch DB, Kominsky A, Kryger M, Krystal AD, Kushida CA, Kuzniar TJ, Lam DJ, Lettieri CJ, Lim DC, Lin HC, Liu SYC, MacKay SG, Magalang UJ, Malhotra A, Mansukhani MP, Maurer JT, May AM, Mitchell RB, Mokhlesi B, Mullins AE, Nada EM, Naik S, Nokes B, Olson MD, Pack AI, Pang EB, Pang KP, Patil SP, Van de Perck E, Piccirillo JF, Pien GW, Piper AJ, Plawecki A, Quigg M, Ravesloot MJL, Redline S, Rotenberg BW, Ryden A, Sarmiento KF, Sbeih F, Schell AE, Schmickl CN, Schotland HM, Schwab RJ, Seo J, Shah N, Shelgikar AV, Shochat I, Soose RJ, Steele TO, Stephens E, Stepnowsky C, Strohl KP, Sutherland K, Suurna MV, Thaler E, Thapa S, Vanderveken OM, de Vries N, Weaver EM, Weir ID, Wolfe LF, Woodson BT, Won CHJ, Xu J, Yalamanchi P, Yaremchuk K, Yeghiazarians Y, Yu JL, Zeidler M, Rosen IM
Int Forum Allergy Rhinol 2023 Jul;13(7):1061-1482. Epub 2023 Mar 30 doi: 10.1002/alr.23079. PMID: 36068685Free PMC Article
Autoimmune encephalitis: proposed best practice recommendations for diagnosis and acute management.
Abboud H, Probasco JC, Irani S, Ances B, Benavides DR, Bradshaw M, Christo PP, Dale RC, Fernandez-Fournier M, Flanagan EP, Gadoth A, George P, Grebenciucova E, Jammoul A, Lee ST, Li Y, Matiello M, Morse AM, Rae-Grant A, Rojas G, Rossman I, Schmitt S, Venkatesan A, Vernino S, Pittock SJ, Titulaer MJ; Autoimmune Encephalitis Alliance Clinicians Network
J Neurol Neurosurg Psychiatry 2021 Jul;92(7):757-768. Epub 2021 Mar 1 doi: 10.1136/jnnp-2020-325300. PMID: 33649022Free PMC Article
Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary.
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525

Recent clinical studies

Diagnosis

ACOX1 gain-of-function variation in a 10-years-old patient responsive to immunomodulating therapy.
Filippi C, Brunetti S, Plumari M, Valente EM, Accorsi P, Fazzi EM
Am J Med Genet A 2024 Nov;194(11):e63796. Epub 2024 Jun 25 doi: 10.1002/ajmg.a.63796. PMID: 38923841
ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.
Thiels C, Lücke T, Rothoeft T, Lukas C, Nguyen HP, von Kleist-Retzow JC, Prokisch H, Grimmel M, Haack TB, Hoffjan S
Neuropediatrics 2024 Apr;55(2):140-145. Epub 2023 Oct 16 doi: 10.1055/s-0043-1776013. PMID: 37846133
A de novo heterozygous variant in ACOX1 gene cause Mitchell syndrome: the first case in China and literature review.
Shen M, Chen Q, Gao Y, Yan H, Feng S, Ji X, Zhang X
BMC Med Genomics 2023 Jul 3;16(1):156. doi: 10.1186/s12920-023-01577-w. PMID: 37400800Free PMC Article
Real-time quaking-induced conversion assays for prions: Applying a sensitive but imperfect test in clinical practice.
Jones SM, Lazar EB, Porter AL, Prusinski CC, Brier MR, Bucelli RC, Day GS
Eur J Neurol 2023 Jul;30(7):1854-1860. Epub 2023 Apr 3 doi: 10.1111/ene.15795. PMID: 36940265Free PMC Article

Therapy

ACOX1 gain-of-function variation in a 10-years-old patient responsive to immunomodulating therapy.
Filippi C, Brunetti S, Plumari M, Valente EM, Accorsi P, Fazzi EM
Am J Med Genet A 2024 Nov;194(11):e63796. Epub 2024 Jun 25 doi: 10.1002/ajmg.a.63796. PMID: 38923841

Prognosis

ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.
Thiels C, Lücke T, Rothoeft T, Lukas C, Nguyen HP, von Kleist-Retzow JC, Prokisch H, Grimmel M, Haack TB, Hoffjan S
Neuropediatrics 2024 Apr;55(2):140-145. Epub 2023 Oct 16 doi: 10.1055/s-0043-1776013. PMID: 37846133
Real-time quaking-induced conversion assays for prions: Applying a sensitive but imperfect test in clinical practice.
Jones SM, Lazar EB, Porter AL, Prusinski CC, Brier MR, Bucelli RC, Day GS
Eur J Neurol 2023 Jul;30(7):1854-1860. Epub 2023 Apr 3 doi: 10.1111/ene.15795. PMID: 36940265Free PMC Article

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