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Neuronopathy, distal hereditary motor, autosomal recessive 5(DSMA5; HMNR5)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 5; Spinal muscular atrophy, distal, autosomal recessive, 5; Young adult-onset distal hereditary motor neuropathy
SNOMED CT: Young adult-onset distal hereditary motor neuropathy (771475006); Autosomal recessive distal spinal muscular atrophy type 5 (771475006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Gene (location): DNAJB2 (2q35)
Monarch Initiative: MONDO:0013947
OMIM®: 614881
Orphanet: ORPHA314485


HMNR5 is an autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition are not impaired (summary by Blumen et al., 2012). For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320). [from OMIM]

Clinical features

From HPO
Pes cavus
MedGen UID:
Concept ID:
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).
Foot dorsiflexor weakness
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Concept ID:
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
MedGen UID:
Concept ID:
Absence of neurologic reflexes such as the knee-jerk reaction.
Gait disturbance
MedGen UID:
Concept ID:
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Distal sensory impairment
MedGen UID:
Concept ID:
An abnormal reduction in sensation in the distal portions of the extremities.
Spinal muscular atrophy
MedGen UID:
Concept ID:
Disease or Syndrome
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of this disease.
Distal muscle weakness
MedGen UID:
Concept ID:
Reduced strength of the musculature of the distal extremities.
Distal lower limb amyotrophy
MedGen UID:
Concept ID:
Disease or Syndrome
Muscular atrophy of distal leg muscles.
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeuronopathy, distal hereditary motor, autosomal recessive 5

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