hereditary motor and sensory neuropathy (HMSN)

Question 1

cause

Answer 1

• genetic abnormalities
• problems making proteins in developing myelin or proteins in axonal function

Question 2

HMSN divided into ? presentations/etiology

Answer 2

• demyelinating
• axonal

Question 3

most common gene responsible for demyelinating HMSN

Answer 3

• PNP22
• makes proteins to maintain function and integrity of myelin sheath

Question 4

most common gene responsible for axonal HMSN

Answer 4

• MFN2
• mutations lead to mitochondrial dysfunction
• primarily affects long peripheral nerves
  -causes axonal degeneration and neuropathy

Question 5

in neuropathy ? nerves are affected usually

Answer 5

• the longer nerves going to feet and hands
• feet and hand muscle wasting and weakness

Question 6

foot abnormalities

Answer 6

• pes cavis (extremely high arch)
• pes platis (flat feet)