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Charcot-Marie-Tooth disease axonal type 2L(CMT2L)

MedGen UID:: 324826
•Concept ID:: C1837552
•: Disease or Syndrome

Synonyms:	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2L; Charcot-Marie-Tooth disease, type 2L; Charcot-Marie-Tooth Neuropathy Type 2L; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2L
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	HSPB8 (12q24.23)

Monarch Initiative:	MONDO:0012096
OMIM®:	608673
Orphanet:	ORPHA99945

Definition

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow. [from ORDO]

Clinical features

From HPO

Pes cavus

MedGen UID:: 675590
•Concept ID:: C0728829
•: Congenital Abnormality

An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).

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Areflexia

MedGen UID:: 115943
•Concept ID:: C0234146
•: Finding

Absence of neurologic reflexes such as the knee-jerk reaction.

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Hyporeflexia

MedGen UID:: 195967
•Concept ID:: C0700078
•: Finding

Reduction of neurologic reflexes such as the knee-jerk reaction.

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Peripheral axonal neuropathy

MedGen UID:: 266071
•Concept ID:: C1263857
•: Disease or Syndrome

An abnormality characterized by disruption of the normal functioning of peripheral axons.

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Distal sensory impairment

MedGen UID:: 335722
•Concept ID:: C1847584
•: Finding

An abnormal reduction in sensation in the distal portions of the extremities.

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Decreased number of large peripheral myelinated nerve fibers

MedGen UID:: 395303
•Concept ID:: C1859606
•: Finding

A reduced number of large myelinated nerve fibers.

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Decreased amplitude of sensory action potentials

MedGen UID:: 870496
•Concept ID:: C4024943
•: Finding

A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.

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Scoliosis

MedGen UID:: 11348
•Concept ID:: C0036439
•: Disease or Syndrome

The presence of an abnormal lateral curvature of the spine.

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Distal muscle weakness

MedGen UID:: 140883
•Concept ID:: C0427065
•: Finding

Reduced strength of the musculature of the distal extremities.

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Distal amyotrophy

MedGen UID:: 338530
•Concept ID:: C1848736
•: Disease or Syndrome

Muscular atrophy affecting muscles in the distal portions of the extremities.

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EMG: chronic denervation signs

MedGen UID:: 871143
•Concept ID:: C4025614
•: Finding

Evidence of chronic denervation on electromyography.

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Abnormality of limbs
- Pes cavus
Abnormality of the musculoskeletal system
Abnormality of the nervous system

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCharcot-Marie-Tooth disease

Fetal anomaly
- Congenital Systemic Disorder
  - Abnormality of the nervous system
    - Hereditary motor and sensory neuropathy
      - Charcot-Marie-Tooth disease
        Charcot-Marie-Tooth disease type 2
        Charcot-Marie-Tooth disease axonal type 2L

Recent clinical studies

Etiology

A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L.

Nakhro K, Park JM, Kim YJ, Yoon BR, Yoo JH, Koo H, Choi BO, Chung KW
Neuromuscul Disord 2013 Aug;23(8):656-63. Epub 2013 Jun 21 doi: 10.1016/j.nmd.2013.05.009. PMID: 23796487

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Diagnosis

Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

Cortese A, Laurà M, Casali C, Nishino I, Hayashi YK, Magri S, Taroni F, Stuani C, Saveri P, Moggio M, Ripolone M, Prelle A, Pisciotta C, Sagnelli A, Pichiecchio A, Reilly MM, Buratti E, Pareyson D
Eur J Neurol 2018 Jan;25(1):154-163. Epub 2017 Dec 2 doi: 10.1111/ene.13478. PMID: 29029362

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Clinical prediction guides

Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

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MedGen

National Center for Biotechnology Information

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Charcot-Marie-Tooth disease axonal type 2L(CMT2L)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

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