Adrenoleukodystrophy Disease

About Gene:

Adrenoleukodystrophy is a rare genetic disease that leads to the build-up of very long fatty acids (VLFAs) in the brain. As a result myelin sheath of nerves is damaged and brain function is impaired. ADL is a X-linked recessive genetic condition so females carrying the disease do not generally show symptoms.

Number of Patients: 1

Disease Causing Genes:

ACSBG1 ELOVL1 IDI1 PEX12 PEX10 SLC27A2 ABCD4 EIF2B2 ACOX1 PEX1 ABCD3 PEX19 BCAP31 PEX5 MIR196A1 MMP10 GPNMB CYP4F2 CHIT1 PFN1 CBS PRKAA1 ADM F8 NLRP3 ABCD1 APOE

Sign and Symptoms:

  1. Dementia
  2. Visual impairment
  3. Multiple sclerosis
  4. Attention Defecit
  5. Hyperactive disorder
  6. Delayed recognition
  7. Hearing impairment
  8. Adrenal insufficiency
  9. Speach impairment
  10. Delayed recognition
  11. Death within a few days
  12. Spatial disorientation
  13. Behavioural disorder
  14. Ataxia
  15. Epileptic seizure
  16. Hair loss

Diagnosis:

Medical history collection, Physical examination, Biochemical findings, MRI and MRS of brain, USG of abdomen, signs of primary adrenal failure, neurological signs referable to degeneration of white matter,

Preventions:

Genetic counseling, carrier detection, antenatal diagnosis, amniocentesis during pregnancy,

Treatment:

rehabilitation, spasticity management by oral baclofen, bed positioning by the pneumatic bed and pressure mapping, neck control SOMI brace use, supervised exercise like PROM, stretching by a physiotherapist, orthosis like AFO, Rolyan figure-8 angle brace, subluxation of shoulder, motor stimulation and swallowing rehab starting with semisolid food intake, training is proper positioning