Hereditary sensory and autonomic neuropathy with spastic paraplegia
- Synonyms
- Autosomal Recessive Sensory Neuropathy with Spastic Paraplegia; Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (20 available)
Clinical features
Help- Abnormality of limbs
- Abnormal foot morphology
Abnormal foot morphology
- MedGen UID: 1762829
- Concept ID: C5399834
- Finding: Anatomical Abnormality
Abnormality of limbs
- Abnormal foot morphology
- Abnormality of metabolism/homeostasis
- Decreased circulating apolipoprotein B concentration
Decreased circulating apolipoprotein B concentration
- MedGen UID: 1814242
- Concept ID: C5676671
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypotriglyceridemia
Hypotriglyceridemia
- MedGen UID: 488913
- Concept ID: C0542037
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Decreased circulating apolipoprotein B concentration
- Abnormality of the immune system
- Foot osteomyelitis
Foot osteomyelitis
- MedGen UID: 1370023
- Concept ID: C4049342
- Finding: Disease or Syndrome
Abnormality of the immune system
- Foot osteomyelitis
- Abnormality of the integument
- Acral ulceration
Acral ulceration
- MedGen UID: 1648438
- Concept ID: C4732740
- Finding: Finding
Abnormality of the integument
- Acral ulceration
- Abnormality of the musculoskeletal system
- Distal amyotrophy
Distal amyotrophy
- MedGen UID: 338530
- Concept ID: C1848736
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Distal amyotrophy
- Abnormality of the nervous system
- Atrophy of the spinal cord
Atrophy of the spinal cord
- MedGen UID: 235592
- Concept ID: C1389102
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Babinski sign
Babinski sign
- MedGen UID: 19708
- Concept ID: C0034935
- Finding: Finding
Abnormality of the nervous system
- Clonus
Clonus
- MedGen UID: 40341
- Concept ID: C0009024
- Finding: Sign or Symptom
Abnormality of the nervous system
- Decreased amplitude of sensory action potentials
Decreased amplitude of sensory action potentials
- MedGen UID: 870496
- Concept ID: C4024943
- Finding: Finding
Abnormality of the nervous system
- Decreased motor nerve conduction velocity
Decreased motor nerve conduction velocity
- MedGen UID: 388130
- Concept ID: C1858729
- Finding: Finding
Abnormality of the nervous system
- Distal sensory impairment
Distal sensory impairment
- MedGen UID: 335722
- Concept ID: C1847584
- Finding: Finding
Abnormality of the nervous system
- Distal sensory impairment of all modalities
Distal sensory impairment of all modalities
- MedGen UID: 322937
- Concept ID: C1836527
- Finding: Finding
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Lower limb spasticity
Lower limb spasticity
- MedGen UID: 220865
- Concept ID: C1271100
- Finding: Finding
Abnormality of the nervous system
- Peripheral axonal neuropathy
Peripheral axonal neuropathy
- MedGen UID: 266071
- Concept ID: C1263857
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Spastic gait
Spastic gait
- MedGen UID: 115907
- Concept ID: C0231687
- Finding: Finding
Abnormality of the nervous system
- Spastic paraplegia
Spastic paraplegia
- MedGen UID: 20882
- Concept ID: C0037772
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Atrophy of the spinal cord
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