Rare Diseases Community
neuromuscular or metabolic diseases
About This Community:

This patient support community is for discussions relating to rare diseases and disorders. Some example include: Aarskog syndrome, Acoustic Neuroma, Angelman Syndrome, Behcet Syndrome, Bell’s Palsy, Canavan Disease, Carbon Baby Syndrome, Charcot Marie Tooth Disease, Chromosome Monosomy Disorders, Chromosome Trisomy Disorders, Devic's Disease, Dystonia, Ewing’s Sarcoma, Fragile X Syndrome, Immune Thrombocytopenia, Kawasaki Syndrome,Maple Syrup Urine Disease, Mastocytosis, McCune Albright syndrome, Pachygyria, Polycystic Kidney Disease, Prader-Willi Syndrome, Reiter’s Syndrome, Sickle cell anemia, Sturge-Weber syndrome, Trisomy Disorders, Usher Syndrome, Xanthinuria, Zollinger-Ellison syndrome.

Font Size:
A
A
A
Background:
Blank
Blank
Blank
Blank Blank

neuromuscular or metabolic diseases

is adrenoleukodystrophy a neuro muscular or metabolic disease?
5 Comments Post a Comment
Blank
Avatar_dr_f_tn
Hi,
How are you? Adrenoleukodystrophy is a rare inherited metabolic disorder.wherein the fatty covering (myelin sheath) on nerve fibers in the brain is lost, and the adrenal gland degenerates, leading to progressive neurological disability and death. This is the medical condition in the movie "Lorenzo's oil" which was shown in 1993.
Blank
Avatar_f_tn
thank you very much for your response. is it possible for my brother and my son to also have this? my brother has gone through practily ever infection i have and his cns is now involved as well. my son is a carbon copy of me for battling infections and his heart is now involved. my brother is 43 and my son is 20.
thank you
mixedblessings
Blank
Avatar_dr_f_tn
Hi,
As mentioned, adrenoleukodystrophy is passed down from parents to their children as an X-linked genetic trait. It therefore affects mostly males, although some women who are carriers can have milder forms of the disease. There are three major categories of disease including childhood cerebral form, adrenomyelopathy ( occurs in men in their 20s or later in life) and impaired adrenal gland function (called Addison disease or Addison-like phenotype). Chromosome study to look for changes (mutations) in the ABCD1 gene or MRI of the head of your brother or son can help. Take care always.
Blank
1215483_tn?1306259455
PLRASE TELL NE WHAY TO LOOK FOR IN MY BLOODWORK,FOTGIVE ERRORS AS MY VISION IS BLURRY
Blank
Avatar_dr_f_tn
Hi,
How are you? Can you elaborate on what blood work and symptoms you are experiencing? Were you able to have your vision checked by your eye doctor? I really want to help and hope to hear from you soon.
Blank
Post a Comment
To
Go
Blank
Weight Tracker
Reach your weight goal faster
Start Tracking Now
MedHelp Health Answers
Top Rare Diseases Answerers
620923_tn?1366319552
Blank
selmaS
Allentown, PA
1756321_tn?1364494483
Blank
Red_Star
Queensland, Australia
995833_tn?1336663431
Blank
maatson
Other
RSS Expert Activity
1741471_tn?1349564002
Blank
Parkinson Awareness Month: Parkinso... Blank
May 10 by Michael Gonzalez-WallaceBlank
233488_tn?1310696703
Blank
NEW STUDIES ON PREVENTING PROGRESSI...
May 08 by John C Hagan III, MD, FACS, FAAOBlank
2126606_tn?1346348724
Blank
Heroin Use in the U.S.
May 08 by Clare Waismann Kavin, Blank