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NEUROMUSCULAR + SKELETAL DISORDERS¹

Neuromuscular + 1° Skeletal disorders Myopathy Hereditary Progressive Diaphyseal Dysplasia (Camurati-Engelmann) Epiphyseal dysplasia (EDM3): Collagen IXa3; 20q13 Uruguay Facio-Cardio-Musculo-Skeletal Syndrome Myhre syndrome Myotonic dystrophy Flier's syndrome Camera-Marugo-Cohen Syndrome Paget disease + IBM Scheie syndrome Tel Hashomer camptodactyly syndrome Bone fragility + Myopathy Acquired Congenital hypothyroidism Vitamin D deficiency Neuropathy CMT 4C Goldberg-Shprintzen Motor neuronopathy with cataracts and skeletal abnormalities Myeloma Neurofibromatosis Refsum Schwartz-Jampel Other Adolescent idiopathic scoliosis : Chromosome 19p13.3; Dominant

Neurogenic Osteoarthropathies (Charcot's joints) Definition Progressive, destructive arthropathy Location: Region of sensory loss Causes: Repeated trauma to anesthetic limb Associated disorders Nerve disorders Infections Leprosy: MP & PIP joints Tabes dorsalis: Knee Amyloidosis Diabetic neuropathy: Most common cause; Foot Alcohol-related neuropathy (Rare) Hereditary neuropathies Local nerve injuries Spinal disorders Syringomyelia: Elbow Injuries Chronic disorders: Multiple sclerosis Congenital: Spina bifida, Meningomyelocele     Rule out: Septic arthritis

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

Uruguay Facio-Cardio-Musculo-Skeletal Syndrome²

• Skeletal
  • Skull: Brachyturricephaly
  • Face: Pugilistic
  • Hands: Broad
  • Feet: Wide; Pes cavus
  • Dislocations: Toes; hips
• Muscle
  • Hypertrophy
  • Waddling gait
  • Serum CK: Mild elevation or normal
  • Muscle biopsy: No abnormalities identified
• Cardiomyopathy: Hypertrophic

Progressive Diaphyseal Dysplasia (Camurati-Engelmann)

• Onset age; Infancy to 30 years
• Discomfort: Limb pain; Fatiguability
• Myopathy³
  • Weakness
  • Muscle atrophy
  • EMG: Myopathic; Small, short action potentials
  • Serum CK & Aldolase: Elevated in 40%
  • Muscle biopsy: Non-specific changes
  • Small muscle fibers: Occasional
  • Basement membrane around small vessels: Thickened; Multilaminated
  • Some muscle fibers with accumulations of mitochondria (by EM)
• Skin
  • Fusiform lower leg swelling
  • Raynaud phenomenon
  • Nail-fold infarcts: Multiple
• Systemic
  • Hypogonadism
  • Hepatosplenomegaly
• Skeletal
  • Bone pain
  • Scoliosis
  • Lumbar hyperlordosis
  • Diaphyseal dysplasia: Osteosclerosis & Hyperostosis
• Treatment for pain: Corticosteroids³

Scheie Syndrome⁴

• Genetics: Same gene as Hurler syndrome
• Clinical
  • Systemic
    • Hepatosplenomegaly
    • Joint stiffness
    • Corneal clouding
    • Heart valve disorders: Thickening
  • Myopathy⁴
    • Clinical
      • Onset: Teens
      • Exercise intolerance
      • Weakness: Mild or None
    • Laboratory
      • Urine: Increased heparan sulfate & dermatan sulfate
      • EMG: Myopathic or Normal
    • Muscle biopsy: PAS positive fibroblasts between muscle fibers
  • Peripheral nerve
    • Carpal tunnel syndrome
  • Myelopathy
    • Onset
      • Adult
      • May occur during enzyme replacement therapy
    • Clinical
      • Location: Cervical
      • Paresthesias: Hands & Feet
      • Weakness: Legs
      • Course: Progressive
      • Treatment: Cervical decompression
    • Pathology: Mucopolysaccharide accumulation in soft tissues