Hereditary spastic paraplegia Disease

About Gene:

Hereditary spastic paraplegia, also known as familial spastic paraparesis or Strümpell-Lorrain syndrome, is a a group of genetic disease that results is weak or stiff leg muscle and progresses over time.

Number of Patients: 1

Disease Causing Genes:

SPAST HSPD1 PLP1 SPG11 ATL1 KIF5A ENTPD1 CYP7B1 SPG7 BSCL2 CAV1 KIF1A WASHC5 SLC2A1 TFG NIPA1 ERLIN2 C9orf72 PNPLA6 NT5C2 FA2H GBA2 ZFYVE26 REEP1 Q ALDH18A1 MAG C9orf12 B4GALNT1 L1CAM UCHL1 DDHD2 CYP2U1 BMPR2 GJC2 CAPN1 CPT1C FARS2 GCH1 NEFL ERLIN1 AP4B1 PLA2G6 ATXN2 AP4M1 ABCD1 VPS37A AMPD2 MTRFR ATP1A1 PRRT2 DDHD1 SLC33A1 AP4E1 ARL6IP1 IBA57 ZFYVE27 SPG19 ABHD16A AP5B1 KY HPDL MYO1H SPG21 RNF170 SELENOI SYNRG PCYT2 SERAC1 VPS13D GPT2 KIF1C L2HGDH ADD3 EXOSC3 PI4K2A DPY30 GAN BICD2 KIDINS220 LYST AFG3L2 UBAP1 AP5Z1 SPART KPNA3 KCNA2 ATAD3A AAAS HSPE1 DSTYK REEP2 UBQLN2 ALS2 LONP1 MT-ATP6 TUBB4A SACS TECPR2 SPTAN1 RTN2, ATP13A2

Sign and Symptoms:

  1. spasticity of lower limbs
  2. equinovarus deformity
  3. hyperreflexia
  4. extensor planter responses
  5. inability to completely evaluate bladder

Diagnosis:

(1) Medical history collection (2) Physical examination (3) MRI (4) CT scan

Preventions:

None

Treatment:

Symptomatic treatment. Baclofen to reduce tone Tizanidine to treat nocturnal or intermittent spasm Diazepam and Clonazepam to decrease the intensity of spasm Botulinum toxin to minimize muscle overactivity. Physical therapy is required to restore and maintain the ability to move; to reduce muscle tone and to maintain or improve range of motion and mobility