Panel 8.3: Peripheral polyneuropathy


Includes:

Spinal muscular atrophy, Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis, other…

The motor neuron diseases are a group of progressive neurological disorders that destroy motor neurons, cells that control voluntary muscle activity essential as speaking, walking, and breathing and swallowing. Typically, messages from nerve cells in the brain (called upper motor neurons) are transmitted to nerve cells in the brain stem and spinal cord (called lower motor neurons) and from there to the particular muscles. Upper motor neurons direct the lower motor neurons to produce movements like walking and chewing. Lower motor neurons control the movement of the arms, legs, chest, face, neck and tongue.

When there are disruptions in these signals, the muscles do not work properly; the result may be the gradual weakening, wasting, and uncontrollable twitching (called fasciculations). When are affected upper motor neurons, the manifestations include spasticity or rigidity of the muscles of the limbs and hyperreactivity of tendon reflexes shake knee and ankle. Finally, you can lose the ability to control voluntary movement.

Charcot-Marie-Tooth (CMT) is one of the most common inherited neurological disorders that affects about 1 in 2,500 people in the United States. The disease is named after the three physicians who first identified in 1886 Jean-Marie Charcot and Pierre Marie in Paris, France, and Howard Henry Tooth in Cambridge, England. CMT, also known as hereditary sensory and motor neuropathy or peroneal muscular atrophy, comprises a group of disorders that affect the peripheral nerves. The peripheral nerves lie outside the brain and spinal cord and provide information to the muscles and sensory organs in the limbs.

NMG8_3: Peripheral polyneuropathy

Panel 8.3: Peripheral polyneuropathy

Included genes:

SIGMAR1 ATP7A PMP22 FIG4
ALS2 UBA1 LITAF PRPS1
SETX FGD4 KIF1B GJB1
SLC52A3 VCP MFN2 LRSAM1
SLC52A2 DHTKD1 RAB7 TFG
SLC52A1 DYNC1H1 MED25 TRPV4
IKBKAP HSPB1 NEFL IGHMBP2
OCRL1 GDAP1 MTMR2 EGR2
DES DNM2 SBF2 MPZ
ASAH1 AARS SH3TC2 HSPB8
PLEKHG5 YARS NDRG1 BSCL2
DNAJB2 INF2 PRX GARS
REEP1 KARS