Neuromuscular

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NEUROMUSCULAR + SKELETAL DISORDERS 1

Familial spine disorders
Neurogenic Osteoarthropathies
  Ulcero-mutilation
Neuromuscular + 1° Skeletal disorders
Neuromuscular + Contractures
Rigid spine syndromes

Lloyd; J Nervous & Mental Disease 1894
Neurogenic Osteoarthropathy: Syphilis

Neuromuscular + 1° Skeletal disorders


 

Neurogenic Osteoarthropathies (Charcot's joints)

Neuropathic ankle

Osteoarthritis: Talonavicular & naviculocuneiform
Fragmentation of navicular bone
Soft tissue swelling around the ankle

Neuropathic fingers

Charcot

Uruguay Facio-Cardio-Musculo-Skeletal Syndrome 2

  Four-and-a-half-LIM protein 1 (FHL1) ; Chromosome Xq26.3; Semi-Dominant

Progressive Diaphyseal Dysplasia (Camurati-Engelmann)

  Transforming growth factor-β-1 (TGFB1) ; Chromosome 19q13.1; Dominant

Scheie Syndrome (MPS Is) 4

  α-L-iduronidase (IDUA) ; Chromosome 4p16.3; Recessive
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References
1. Balliere's Clin Rheumatol 2000;14:325-343
2. Am J Med Genet 2000;95:247-265, Circ Cardiovasc Genet 2016 Mar 1
3. J Paediatr Child Health 1999;35:401-405; Pediatrics 1985;76:944-949
4. Neuropediatrics 2001;32:93-96

3/7/2016