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Sensory Disorders - Large + Small Fiber

   
Chronic sensory neuropathy
High arches & Hammer toes
Preserved gastrocnemius size



Hereditary Sensory Neuropathy IIA (HSAN IIA; HSAN2A)
  Protein kinase, lysine-deficient 1 (WNK1; WNK1/HSN2) ; Chromosome 12p13.33; Recessive


Hereditary Sensory Neuropathy IIB (HSAN II) 5
  Family with sequence similarity 134, Member B (FAM134B; RETREG1) ; Chromosome 5p15.1; Recessive


Hereditary sensory neuropathy with Spastic paraparesis: Autosomal recessive

Multiple Symmetric Lipomatosis (Madelung syndrome)
  Autosomal Dominant, Mitochondrial, or Sporadic
  • Growth of uncapsulated masses of adipose tissue
  • Epidemiology
    • Middle-aged males
    • Mediterranean region
    • History of alcohol abuse
    • Protease inhibitor treatment
  • Clinical features
    • Fat accumulations: Multiple lipomas
      • Distribution: Symmetric; Distal arms & legs are spared
      • Types
        • I
          • Lipomas: Nape of neck, Supraclavicular & Deltoid areas
          • Bull-neck
        • II
          • Lipomas: Extend over the body
          • Appearance: Simple obesity
    • Polyneuropathy
      • Distribution: Distal; Symmetric
      • Modalities: Sensory-Motor; ± Autonomic involvement
      • Pathology
        • Distal predominance
        • Axon loss: Large > Small
  • Metabolic
    • Hyperuricemia
    • Triglycerides (VLDL, chylomicrons): High
    • High-density lipoproteins (HDL): High
  • Mitochondrial MSL disorder
    • A8344G mutation in mitochondrial tRNALys
    • Some families also with MERRF syndrome
    • Muscle: May have ragged red fibers
  • Treatment: Surgical removal
    • Compression or Cosmetic reasons
    • Usually recur

From Johns Hopkins Medicine


Ulcero-mutilating Neuropathies: Dominant


HSN 1F: Sensory Neuropathy with Bone Destruction 6
  Atlastin GTPase 3 (ATL3) ; Chromosome 11q13.1; Dominant
Hereditary Sensory > Motor Neuropathy with Ulcero-mutilation 1
  Autosomal Dominant
Hereditary Sensory-Motor Neuropathy with Ulcero-mutilation 2
  Autosomal Dominant
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References
1. Neurology 2000;54:45-52
2. Neuromuscular Disorders 2002;12:286-291
3. Am J Hum Genet 2004;74: May, J Clin Invest 2008 Jun 2
4. European Journal of Human Genetics 2005; Online December
5. Nature Genetics 2009; Online October, J Cell Physiol 2018;233:4479-4489, Front Genet 2019 Oct 31
6. Brain 2014; Online January

10/22/2020