Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Neuronopathy, distal hereditary motor, type 7B(HMN7B; HMND14)

MedGen UID:: 375157
•Concept ID:: C1843315
•: Disease or Syndrome

Synonyms:	HMN VIIB; LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE; NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 14; NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIB; NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIB; NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, HARDING TYPE VIIB

Gene (location): Gene(s) directly associated with this condition or phenotype.	DCTN1 (2p13.1)

Monarch Initiative:	MONDO:0011879
OMIM®:	607641

Authors:

Clinical features

From HPO

Hand muscle weakness

MedGen UID:: 66798
•Concept ID:: C0239831
•: Finding

Reduced strength of the musculature of the hand.

See: Feature record | Search on this feature

Lower limb muscle weakness

MedGen UID:: 324478
•Concept ID:: C1836296
•: Finding

Weakness of the muscles of the legs.

See: Feature record | Search on this feature

Abnormal lower motor neuron morphology

MedGen UID:: 356272
•Concept ID:: C1865412
•: Finding

Any structural anomaly of the lower motor neuron.

See: Feature record | Search on this feature

Hand muscle atrophy

MedGen UID:: 116091
•Concept ID:: C0239830
•: Finding

Muscular atrophy involving the muscles of the hand.

See: Feature record | Search on this feature

Weakness of facial musculature

MedGen UID:: 98103
•Concept ID:: C0427055
•: Disease or Syndrome

Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).

See: Feature record | Search on this feature

Distal muscle weakness

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

Reduced strength of the musculature of the distal extremities.

See: Feature record | Search on this feature

Distal amyotrophy

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

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

See: Feature record | Search on this feature

Vocal cord paralysis

MedGen UID:: 53047
•Concept ID:: C0042928
•: Disease or Syndrome

A loss of the ability to move the vocal folds.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of limbs
- Hand muscle weakness
- Lower limb muscle weakness
Abnormality of the musculoskeletal system
Abnormality of the nervous system
- Abnormal lower motor neuron morphology
Abnormality of the voice
- Vocal cord paralysis

Recent clinical studies

Clinical prediction guides

Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.

Hwang SH, Kim EJ, Hong YB, Joo J, Kim SM, Nam SH, Hong HD, Kim SH, Oh K, Lim JG, Cho JH, Chung KW, Choi BO
Mol Med Rep 2016 Oct;14(4):3362-8. Epub 2016 Aug 22 doi: 10.3892/mmr.2016.5664. PMID: 27573046

See all (1)

MedGen

National Center for Biotechnology Information

Send to:

Neuronopathy, distal hereditary motor, type 7B(HMN7B; HMND14)

Clinical features

Recent clinical studies

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

Recent activity