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Mitchell syndrome(MITCH)

MedGen UID:: 1714342
•Concept ID:: C5394554
•: Disease or Syndrome

Synonyms:	MITCH; MITCHELL SYNDROME

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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Areflexia of lower limbs

MedGen UID:: 347285
•Concept ID:: C1856694
•: Finding

Inability to elicit tendon reflexes in the lower limbs.

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Dysphagia

MedGen UID:: 41440
•Concept ID:: C0011168
•: Disease or Syndrome

Difficulty in swallowing.

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Abnormal autonomic nervous system physiology

MedGen UID:: 8511
•Concept ID:: C0013363
•: Disease or Syndrome

A functional abnormality of the autonomic nervous system.

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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.

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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.

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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.

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Abnormal cerebral white matter morphology

MedGen UID:: 181756
•Concept ID:: C0948163
•: Pathologic Function

An abnormality of the cerebral white matter.

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Sensory axonal neuropathy

MedGen UID:: 334116
•Concept ID:: C1842587
•: Finding

An axonal neuropathy of peripheral sensory nerves.

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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

Difficulty walking

MedGen UID:: 86319
•Concept ID:: C0311394
•: Finding

Reduced ability to walk (ambulate).

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Respiratory insufficiency due to muscle weakness

MedGen UID:: 812797
•Concept ID:: C3806467
•: Finding

See: Feature record | Search on this feature

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Abnormality of limbs
Abnormality of the digestive system
- Dysphagia
Abnormality of the musculoskeletal system
- Difficulty walking
Abnormality of the nervous system
Abnormality of the respiratory system
- Respiratory insufficiency due to muscle weakness

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: 36068685 Free 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: 33649022 Free 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

See all (143)

Recent clinical studies

Diagnosis

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: 37400800 Free 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: 36940265 Free PMC Article

See all (3)

Prognosis

ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.

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: 36940265 Free PMC Article

See all (2)

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Mitchell syndrome(MITCH)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Diagnosis

Prognosis

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