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Decreased distal sensory nerve action potential

MedGen UID:
Concept ID:
HPO: HP:0007230


A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies. [from HPO]

Conditions with this feature

Charcot-Marie-Tooth disease type 1C
MedGen UID:
Concept ID:
Disease or Syndrome
For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
MedGen UID:
Concept ID:
Disease or Syndrome
Charcot-Marie-Tooth disease type 2E
MedGen UID:
Concept ID:
Disease or Syndrome
A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Onset is in the first to sixth decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and after years all patients have a pes cavus. Other signs may be present including hearing loss and postural tremor.
Charcot-Marie-Tooth disease axonal type 2C
MedGen UID:
Concept ID:
Disease or Syndrome
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive adult-onset, slowly progressive neurologic disorder characterized by imbalance due to cerebellar gait and limb ataxia, impaired vestibular function bilaterally, and non-length-dependent sensory neuropathy (summary by Szmulewicz et al., 2011).
Charcot-Marie-Tooth disease, axonal, type 2EE
MedGen UID:
Concept ID:
Disease or Syndrome
Charcot-Marie-Tooth disease type 2EE (CMT2EE) is an autosomal recessive sensorimotor peripheral axonal neuropathy with onset in the first or second decades of life. The disorder primarily affects the lower limbs and is slowly progressive, sometimes resulting in loss of ambulation, with later onset of upper limb involvement. There is significant distal muscle weakness and atrophy, usually with foot or hand deformities. Skeletal muscle biopsy shows findings of disturbed mitochondrial maintenance. Cognition is unaffected, and chronic liver disease is absent (summary by Baumann et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210).

Professional guidelines


Maschio M, Mengarelli A, Zarabla A, Giannarelli D, Maialetti A, Gumenyuk S, Renzi D, Palombi F, Pisani F, Romano A, Spadea A, Galiè E, Marchesi F
Clin Neuropharmacol 2019 Sep/Oct;42(5):167-171. doi: 10.1097/WNF.0000000000000360. PMID: 31361668
Hosokawa T, Nakajima H, Unoda K, Yamane K, Doi Y, Ishida S, Kimura F, Hanafusa T
J Neurol 2016 Sep;263(9):1709-18. Epub 2016 Jun 8 doi: 10.1007/s00415-016-8192-2. PMID: 27278064
Bansagi B, Antoniadi T, Burton-Jones S, Murphy SM, McHugh J, Alexander M, Wells R, Davies J, Hilton-Jones D, Lochmüller H, Chinnery P, Horvath R
J Neurol 2015 Aug;262(8):1899-908. Epub 2015 Jun 2 doi: 10.1007/s00415-015-7778-4. PMID: 26032230Free PMC Article

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