Hallervorden-Spatz is a disease that slowly gets worse (is degenerative). It usually begins in childhood. The condition involves muscle rigidity, weakness, and movement problems. Most cases of Hallervorden-Spatz are due to a defect in a gene that makes a protein called pantothenate kinase 2.
Hallervorden-Spatz disease is an inherited, degenerative disease that usually begins in childhood and involves progressive muscle rigidity, weakness, and movement disorder. The disease can be familial or sporadic. When familial, it is inherited recessively and has been linked to chromosome 20. In these patients, chronic repeated dystonic movements, especially of the head and neck, can lead to excessive stress on the cervical spine, resulting in early degenerative changes and myelopathy.
Symptoms, which vary greatly among patients and usually develop during childhood, may include slow writhing, distorting muscle contractions of the limbs, face, or trunk, choreoathetosis (involuntary, purposeless jerky muscle movements), muscle rigidity (uncontrolled tightness of the muscles), spasticity , ataxia (inability to coordinate movements), confusion, disorientation, seizures, stupor, and dementia. Mental deterioration, emaciation, severe feeding difficulties, and visual impairment occur commonly in the late stages of the disease.
Other less common symptoms may include painful muscle spasms, dysphasia (difficulty speaking), mental retardation, facial grimacing, dysarthria (poorly articulated speech), and visual impairment. Hallervorden's enthusiastically encouraged the killings and the other aspects that led to the dehumanization of both the victims and the participants. Some believe that Hallervorden's name should be removed from this disorder. It has been suggested that the disease might be called "Martha-Alma disease" for the 2 unfortunate sisters whose brains were first dissected in the original description of the disease by Hallervorden and Spatz.
The disease is equally common in both sexes. The goal of treatment is to control the symptoms. Although there is no specific treatment for Hallervorden-Spatz disease, many believe taking certain vitamins may be beneficial, including pantothenate, Coenzyme Q, and other anti-oxidants. Botulinum toxin can be injected into severely affected muscles to relieve dystonia. Continuous intrathecal baclofen infusion has been tried for refractory generalized dystonia without much success. Stereotactic pallidotomy and bilateral thalamotomy occasionally have been tried for patients with severe dystonia, resulting in partial relief of symptoms
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