Spinal muscular atrophy type 3 Disease

About Gene:

Spinal muscular atrophy type 3 is a rare genetic disease that characteristically leads to muscle weakness in the limbs resulting from degeneration of alpha motor neurons in the anterior horns of the spinal cord. Age of on set varies among individuals

Number of Patients: 0

Disease Causing Genes:

PTEN ATP7A GARS1 SMN1 TRPV4 IGHMBP2 AR RYR1 SIGMAR1 MTOR EWSR1 MATR3 SLC1A3 BRAF LEP SNCA CORO1C IGF1R DNAJB2 FUS TRIP4 NEFL VAPB DYNC1H1 KDSR ERN1 C9orf72 ACE2 ABCA1 KLF15 HSPG2 GDNF SMN2 REEP1 ASAH1 SETX BCL2L1 UBA1 SERF1A CHIT1 STAT5A NAIP VRK1 TK2 XBP1 PRL UPF1 ATF6 MIR9-1 MIR23A OCLN HNRNPM CARM1 KLF7 HEXB TAF15 MIR335 SYNCRIP ASCC1 GTF2H2 DPP6 SCO2 CHCHD10 ERGIC1 SNRPC PLEKHG5 ZPR1 ANKRD1

Sign and Symptoms:

  1. Difficulty in movement (climbing stairs, walking, etc)
  2. Frequent respiratory infections
  3. mild muscle weakness

Diagnosis:

(1) Medical history collection (2) Nerve examination (3) Biochemical test (4) EMG (5) Muscle biopsy

Preventions:

Treatment: