Table 1.
Clinical Phenotypes of ATP7A-linked Disorders.
| Clinical Type * | Abreviation | OMIM | Age of Onset | Diagnostic Pointer | Connective Tissue Involvement | Motor Function * | Mental Function * | Age of Death § |
|---|---|---|---|---|---|---|---|---|
| Menkes Disease | MNK | 309400 | 0–8 months | Kinky Hair; floppy infant; mimicry of severe metabolic disorders of lysosomes, mitochondria, and peroxisomes; dysautonomia | Severe; osteoporoses; hemorrhages; bladder and bowel diverticulae | Poor mobility; no head control | Severe mental retardation | <3 years |
| Long Surviving Menkes | LS | 309400 | 0–8 months | Hair changes; dysautonomia; floppy; initial symptoms similar to MNK | Severe to moderate | Poor mobility; limited head control | Severe mental retardation | <15 years |
| Moderate Menkes | MOD | 309400 | 3–12 months | Coarse hair; dysautonomia; initial course milder; clinical diagnosis difficult | Present, but not obvious; skeletal dysplasia may occur | Wheelchair bound; cannot sit unsupported | Mentally retarded | <40 years |
| Mild Menkes | MILD | 309400 | 2–3 years | Coarse hair; dysautonomia; initial course mild; clinical diagnosis difficult | Minimal to moderate; skeletal dysplasia; | Walk with difficulty and with use of aid | Moderately retarded; Slow and dull | >40 years |
| Occipital Horn Syndrome # | OHS | 304150 | Childhood | Coarse hair; X-linked family history; connective tissue problems; muscle affection; dysautonomia, | Exostoses on occipital bones; skeletal dysplasia; cutis laxa; hyperextensible joints; vascular complications | Walk independently; appear clumsy | Slow or dull to normal IQ | 40–60 years |
| X-linked distal spinal muscular atrophy 3 | SMAX3 | 300489 | Adulthood | X-linked family history of muscle wasting; dysautonomia with prevalent adrenergic involvement |
Minor connective tissue involvement; minor occipital horns may occur | Walk independently; progressive distal motor neuropathy | Normal IQ; normal fertility | <80 years |
* clinical types are poorly delineated with overlapping symptoms and functions within and between groups; # occipital horns depend on head control and can occur from two years; § connective tissue complications shorten lifespan; Cu treatment prolongs lifespan.