General Principles of Neuromuscular Disorders

History

• Pregnancy
• Delivery
• Growth & development
• Static versus progressive
• Family history

Physical Exam

• Good general musculoskeletal exam including skin, neurologic
• highlights are looking for scoliosis, hip contracture, knee contracture, achilles contracture & the shape of the foot
• Gait
• Simple activities
• Ancillary – opthomology

Investigations

Haematologic

• CPK – represents striated muscle
• Aldolase
• SGOT

EMG

• Neuropathic – fibrillation potentials
• Myopathic – low voltage polyphasic action potentials
• This is not clear cut

Nerve Conduction Studies

• HMSN disease i.e CMT

Muscle Biopsy

• “3 lengths”
• muscle clamps are used to maintain length relationships

Nerve Biopsy

• 3-4 cm of sural nerve

Other

• EKG, PFT, Optho consult, genetic studies