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HALLERVORDEN SPATZ SYNDROME PDF

Hallervorden-Spatz syndrome is a rare neurodegenerative disease of autosomal recessive inheritance which presents in childhood or early adulthood with. Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation 1 (NBIA1), also called Hallervorden–Spatz syndrome, is a degenerative disease of the. Hallervorden-Spatz syndrome was first described in by Drs. Julius Hallervorden and Hugo Spatz with their study of a family of 12 in which five sisters.

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Only comments seeking to improve the quality and accuracy of information on the Hallervordem website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Pantothenate kinase-associated neurodegeneration PKAN is the most common type of neurodegeneration with brain iron accumulation NBIA; see this terma rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction dystonia, rigidity, choreoathetosisiron accumulation on the brain and axonal spheroids in the central nervous system.

Patients present with symptoms anywhere along a continuum between the two. In classic PKAN, patients present with impaired gait and falling, often related to dystonia, rigidity, impaired balance, or spasticity, and usually lose the ability to ambulate by years after onset.

Pantothenate Kinase-Associated Neurodegeneration – NORD (National Organization for Rare Disorders)

Episodes of rapid decline, which may include status dystonicus, occur interspersed with longer periods of relative stability. Developmental delay primarily motor, sometimes global may occur. Patients frequently develop pigmentary retinal degeneration and dysarthria. Later in disease course common complications include dysphagia, gastro-oesophageal reflux, chronic constipation, aspiration pneumonia and malnutrition.

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In atypical PKAN, patients present with speech difficulty, mild gait abnormalities, prominent psychiatric symptoms that may include depression, emotional lability, impulsivity, or violent outbursts, pigmentary retinal degeneration less frequently than in classic PKAN and both verbal and motor tourettism.

Motor involvement is generally less severe and loss of ambulation occurs within years of onset.

Genetic analysis is required to confirm diagnosis. Differential diagnoses include Wilson disease see this termwhich is excluded by normal plasma ceruloplasmin concentration or copper metabolism, and other types of NBIA, which can be differentiated using MRI findings and genetic testing. Prenatal testing is available if both disease-causing mutations have been identified in an affected family member. Treatment aims to alleviate symptoms, including baclofen oral or intrathecal pump and trihexyphenidyl for dystonia and spaciticy, and botulinum toxin for patients whose quality of life is improved by treating a limited body region.

Deep brain stimulation DBS may relieve some symptoms. Frequent contact with patients and treatment adjustments are required to maintain as high a quality of life as possible. Dietary assessment, gastrostomy hallervordenn feeding and dental extraction in cases with severe orobuccolingual dystonia may be required.

PKAN is a progressive disorder and lost hallervordej are usually not regained. Rate of progression correlates with age at onset; those with early symptoms decline more rapidly.

Life span is variable but premature death does occur. Other search option s Alphabetical list. Summary and related texts. Check this box if you wish to receive a copy of your message.

Disease definition Pantothenate kinase-associated neurodegeneration PKAN is the most common type of neurodegeneration with brain iron accumulation NBIA; see this terma rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction dystonia, rigidity, choreoathetosisiron accumulation on the brain and axonal spheroids in the central nervous system. Differential diagnosis Differential diagnoses include Wilson disease see this termwhich is excluded by normal plasma ceruloplasmin concentration or copper metabolism, and other types of NBIA, which can be differentiated using MRI findings and genetic testing.

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Antenatal diagnosis Prenatal testing is available if both disease-causing mutations have been identified in an affected family member. Genetic counseling Transmission is autosomal recessive. Management and treatment Treatment aims to alleviate symptoms, including baclofen oral or intrathecal pump and trihexyphenidyl for dystonia and spaciticy, and botulinum toxin hallervoeden patients whose quality of life is improved by treating a limited body region.

Prognosis PKAN is a progressive disorder and lost skills are usually not regained. Detailed information Article for general public Deutschpdf Svenska Professionals Summary information Greekpdf Anesthesia guidelines Englishpdf Review article English Clinical genetics review English Additional information Further information on this disease Classification s 4 Gene s 1 Clinical signs and symptoms Other website s 5. Health care resources for this disease Expert centres Halleervorden tests 51 Patient organisations 54 Orphan drug s 3.

Hallervorden-Spatz Disease

Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.