Adrenoleukodystrophy (ALD) is a genetic condition affecting the nervous system and adrenal glands. It is most common in men, manifesting with neurological and behavioral symptoms. However, symptoms may vary widely by the type of ALD and age.
ALD type-specific symptoms
Childhood cerebral adrenoleukodystrophy
Generally diagnosed between the ages of 4 and 10, those with childhood cerebral adrenoleukodystrophy (CALD) usually have behavioral and neurological symptoms.
Behavioral changes and inattentiveness in school are some of the more noticeable symptoms of the early stages of the disease.
Some children may experience seizures — a sudden change in brain activity — as the first symptom.
Dysphagia (inability to swallow), vomiting, clumsiness, vision problems, ataxia (coordination problems), aggressiveness, learning disability, adrenal gland dysfunction, and fatigue are other symptoms that occur as the disease progresses and may lead to complete disability.
In adrenomyeloneuropathy (AMN), the adult-onset form of ALD, patients experience balance and coordination problems, as well as difficulties walking. Leg muscle weakness and progressive spasticity (muscle stiffness), muscle spasms, and tingling and pain in the hands and feet (peripheral neuropathy) can occur as the condition progresses. Symptoms may also include bladder and bowel function impairment and genital problems. Damage to the brain may cause behavioral changes and thinking disability, while adrenal insufficiency may be observed if the adrenal glands have been injured.
In patients with Addison’s disease, adrenal insufficiency without any accompanying neurological signs can appear any time between childhood and adulthood. Other symptoms include vomiting, loss of appetite, and muscle weakness. Extreme tiredness or fatigue, pain, and darkening of the skin are some of the reported nonspecific symptoms.
Other less common symptoms
Other less common symptoms of ALD that can be seen in any type of the disease are:
- elevated intracranial pressure
- speaking difficulty
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