The clinical presentation of<unk>  can vary greatly, making diagnosis difficult. With the variety of phenotypes, clinical suspicion of<unk>  can result from a variety of different presentations. Symptoms vary based on the disease phenotype, and even within families or between twins. When<unk>  is suspected based on clinical symptoms, the initial testing usually includes plasma very long chain fatty acid (VLCFA) determination using gas chromatography-mass spectrometry. The concentration of unsaturated VLCFA, particularly 26 carbon chains is significantly elevated in males with<unk> , even prior to the development of other symptoms. Confirmation of<unk>  after positive plasma VLCFA determination usually involves molecular genetic analysis of ABCD1. In females, where plasma VLCFA measurement is not always conclusive (some female carriers will have normal VLCFA in plasma), molecular analysis is preferred, particularly in cases where the mutation in the family is known. Although the clinical phenotype is highly variable among affected males, the elevations of VLCFA are present in all males with an ABCD1 mutation. Because the characteristic elevations associated with<unk>  are present at birth, well before any symptoms are apparent, there have been methods developed in the interests of including it in newborn screening programs. One of the difficulties with<unk>  as a disease included in universal newborn screening is the difficulty in predicting the eventual phenotype that an individual will express. The accepted treatment for affected boys presenting with the cerebral childhood form of the disease is a bone marrow transplant, a procedure which carries significant risks. However, because most affected males will demonstrate adrenal insufficiency, early discovery and treatment of this symptom could potentially prevent complications and allow these patients to be monitored for other treatment in the future, depending on the progression of their disease. The Loes score is a rating of the severity of abnormalities in the brain found on MRI. It ranges from 0 to 34, based on a point system derived from the location and extent of disease and the presence of atrophy in the brain, either localized to specific points or generally throughout the brain. A Loes score of 0.5 or less is classified as normal, while a Loes score of 14 or greater is considered severe. It was developed by neuroradiologist Daniel J. Loes MD and is an important tool in assessing disease progression and the effectiveness of therapy.
Adrenoleukodystrophy
Hereditary inclusion body myopathy
Inclusion body myositis
Mitochondrial myopathy
Familial amyloid neuropathy
Familial amyloid polyneuropathy
Charcot–Marie–Tooth disease
Lambert–Eaton myasthenic syndrome