Neuromuscular

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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)
  WNK1 ; Chromosome 12p13.33; Recessive


Hereditary Sensory Neuropathy IIB (HSAN II) 5
  FAM134B ; Chromosome 5p15.1; Recessive


Hereditary sensory neuropathy with Spastic paraparesis: Autosomal recessive



Multiple Symmetric Lipomatosis (Madelung syndrome)

From Johns Hopkins Medicine
  Autosomal Dominant, Mitochondrial, or Sporadic


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
6. Brain 2014; Online January

2/2/2016