In patients with atypical disease, PANK2 mutation is present in only 33% of cases. [4] The eye-of-the-tiger sign may or may not be present in these patients. [ijri.org]

The symptoms and signs of the syndrome are described, and these can present from infancy to adult life. Dystonia, involuntary movements and spasticity are prominent causes of disability. If the onset is delayed the presentation can be unusual. [ncbi.nlm.nih.gov]

When present it occurs early and one series reported that it is unlikely to appear later if it was not present early in the course of the neurodegeneration. Some patients have a fleck-like retinopathy. Optic atrophy may be present in advanced cases. [disorders.eyes.arizona.edu]

Neurosurg. (2004) [ Pubmed ] Optic atrophy as the presenting sign in Hallervorden-Spatz syndrome. Casteels, I., Spileers, W., Swinnen, T., Demaerel, P., Silberstein, J., Casaer, P., Missotten, L. [wikigenes.org]

• Feeding Difficulties

  Mental deterioration, emaciation, severe feeding difficulties, and visual impairment occur commonly in the late stages of the disease. The disease has its onset in the first or second decade of life. [medicinenet.com]

• Short Stature

  stature Necrosis of pituitary gland (postpartum) Panhypopituitarism Pituitary cachexia Pituitary insufficiency NOS Pituitary short stature Sheehan's syndrome Simmonds' disease Hypoplasia, hypoplastic Hypoplasminogenemia E88.02 ICD-10-CM Diagnosis Code [icd10data.com]

• Muscle Rigidity

  Other clinical features include distorting muscle contractions of the face, limbs, and trunk, choreoathetosis, muscle rigidity, spasticity, seizures, and dementia. [accessanesthesiology.mhmedical.com]

  Physiotherapy: helps to reduce muscle rigidity and improve muscle weakness. It may also help with muscle spasms and other muscular issues. Speech therapy: can be useful for Dysphagia or speech impairment. [askdrshah.com]

  Therapy Physical therapy can help prevent and reduce muscle rigidity. It may also help reduce your muscle spasms and other muscular issues. Occupational therapy can help you develop skills for daily life. [healthline.com]

  Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. [genecards.org]

• Facial Grimacing

  grimacing Painful muscle spasms Diagnosis Enquire about family history, because the disease can be inherited. [askdrshah.com]

  grimacing painful muscle spasms HSD is a genetic disease. [healthline.com]

• Dystonia

  Dystonia was related to cerebral palsy in three patients and to Hallervorden-Spatz disease in two [4]. [wikigenes.org]

  Generalized dystonia is one of the most disabling movement disorders. Ablative stereotactic surgery such as pallidotomy has been performed for medically refractory dystonia. [ncbi.nlm.nih.gov]

  It is postulated that dystonia and other extrapyramidal signs of HSS are attributed to degeneration of basal ganglia output neurons. [pediatricneurologybriefs.com]

• Dysarthria

  The Hallervorden-Spatz syndrome (HSS) is a rare condition characterized by extrapyramidal and pyramidal signs, dystonia, dysarthria, retinal degeneration, dementia and a progressive course. [ncbi.nlm.nih.gov]

  He deve- loped dysarthria, difficulty with his gait and dystonia in his arms at the age of 28 years. Patient 2 was a 33 year old man who was the older brother of the first patient. [jmatonline.com]

  Described features include 9,11: progressive dementia extrapyramidal signs (rigidity, dystonia, choreoathetosis) corticospinal signs (spasticity, hyperreflexia) dysarthria retinitis pigmentosa tremors The clinical course is usually relentlessly progressive [radiopaedia.org]

• Ataxia

  Related Media Associated Disorders Abetalipoproteinemia Antiphospholipid syndrome Ataxia telangiectasia Ataxia with CoQ10 deficiency Ataxia with vitamin E deficiency Athetosis Ballism Benign developmental movement disorders Benign hereditary chorea Benign [medlink.com]

  We studied a 27-year-old woman who died after a 6-year history of progressive dementia, dystonia, ataxia, apraxia, spasticity, choreoathetosis, visual and auditory hallucinations, and optic atrophy. [ncbi.nlm.nih.gov]

• Hyperreflexia

  Described features include 9,11: progressive dementia extrapyramidal signs (rigidity, dystonia, choreoathetosis) corticospinal signs (spasticity, hyperreflexia) dysarthria retinitis pigmentosa tremors The clinical course is usually relentlessly progressive [radiopaedia.org]

  Neurologically, opisthotonus, rigidity of extremities, dystonia, hyperreflexia, profound emaciation, and bilaterally positive Babinski signs were present. [ncbi.nlm.nih.gov]

  Each patient had spastic gait, dysarthria, dystonic posturing of both arms and generalized hyperreflexia, but no Kayser-Fleischer rings or retinitis pigmentosa. Blood chemistry, urine copper, serum copper and serum ceruloplasmin were all normal. [jmatonline.com]

  Neurological examination revealed bradykinesia, hypophonic speech, resting and postural tremor, rigidity, spasticity, hyperreflexia and psychosis. Keywords: Brain, abnormalities How to Cite: Dilli A, Ayaz UY, Sarıkaya S, Kaplanoglu H, Hekimog˘lu B. [jbsr.be]

• Extrapyramidal Symptoms

  Hallervorden-Spatz syndrome is a group of rare and severe disorders marked by extrapyramidal symptoms and iron accumulation in the globi pallidi, usually visible by magnetic resonance imaging. [ncbi.nlm.nih.gov]

  Aceruloplasminemia is an autosomal recessive disorder of iron metabolism which leads to iron deposition in the basal ganglia, thalamus, cerebellum and hippocampus and which usually presents in middle age with extrapyramidal symptoms and dementia. [dovepress.com]

  He presented with extrapyramidal symptoms and characteristic "eye-of-the-tiger" sign on magnetic resonance imaging. He was given the possible benefit if any of deep brain stimulation with no much improvement. [neurologyindia.com]

(See Presentation and Workup.) [4, 5, 6] PKAN is relentlessly progressive. The clinical course is characterized by progressive dementia, spasticity, rigidity, dystonia, and choreoathetosis. [emedicine.com]

Treatment Treatment Options: Pharmacologic treatment is aimed at alleviation of specific symptoms such as dystonia and spasticity. Some symptoms may improve with deep brain stimulation. [disorders.eyes.arizona.edu]

Bilateral pallidal stimulation is an effective and safe treatment for intractable generalized dystonia in Hallervorden-Spatz syndrome, even if the disability is severe and longstanding [16]. [wikigenes.org]

Prognosis: Fatal; Mean duration disease after symptom onset = 11 yrs Treatment: No curative treatment. Iron chelation ineffective. Palliative treatment with Baclofen, trihexyphenidyl, stereotactic pallidotomy, Pantothenate (vit B5). [neuroradiologycases.com]

Western blot analysis with specific hPANK2 antibodies was used to investigate the effect of the RNAi treatment (48 h after RNAi treatment) on hPANK2 protein levels. GAPDH was used as a loading control. [doi.org]

[…] choreoathetosis, torsion spasm–dystonia, parkinsonism, cerebellar ataxia, speech impairment, mental deterioration, generalized rigidity Imaging Cerebral atrophy by CT DiffDx Dementia with extrapyramidal motor defects, Wilson's disease Management None Prognosis [medical-dictionary.thefreedictionary.com]

Prognosis: Fatal; Mean duration disease after symptom onset = 11 yrs Treatment: No curative treatment. Iron chelation ineffective. Palliative treatment with Baclofen, trihexyphenidyl, stereotactic pallidotomy, Pantothenate (vit B5). [neuroradiologycases.com]

Prognosis PKAN is a progressive disorder and lost skills 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. [orpha.net]

What Is the Prognosis of Hallervorden Spatz Disease? HSD gets worse with time. Progression of the disease is faster in affected children than in people who develop HSD later in life. People with late-onset HSD may live well into adulthood. [askdrshah.com]

These findings suggest that obtaining a buffy coat and bone marrow biopsy may aid in the diagnosis of Hallervorden-Spatz syndrome and ultimately provide information regarding etiology. [ncbi.nlm.nih.gov]

Etiology The exact etiology of PKAN is not known. One proposed hypothesis is that abnormal peroxidation of lipofuscin to neuromelanin and deficient cysteine dioxygenase lead to abnormal iron accumulation in the brain. [emedicine.com]

Relevant External Links for PANK2 Genetic Association Database (GAD) PANK2 Human Genome Epidemiology (HuGE) Navigator PANK2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PANK2 No data available for Genatlas for PANK2 Gene A novel pantothenate [genecards.org]

Summary Epidemiology Prevalence is estimated at 1-2/1,000,000. Clinical description Classic PKAN (75% of cases) is characterized by early onset, usually before six years of age, and rapid progression. [orpha.net]

Pantothenate kinase-associated neurodegeneration EPIDEMIOLOGY PKAN was first described by Drs. Julius Hallervorden and Hugo Spatz in 1922. [flipper.diff.org]

Generalized atrophy of the brain parenchyma may be seen in severely advanced cases.[4][5] Epidemiology According to some studies prevalence of PKAN is 1-9/1000000. [ncbi.nlm.nih.gov]

The clarification of the role of oxidative distress in the pathophysiology of the syndrome will fill a large void in the understanding of the condition. [ncbi.nlm.nih.gov]

The clarification of the role of oxidative distress in the pathophysiology of the syndrome will fill a large void in the understanding of the condition. Le texte complet de cet article est disponible en PDF. Plan © 2001 Elsevier Science Inc. [em-consulte.com]

We here demonstrate that pantethine administration can prevent the onset of the neuromuscular phenotype in mice suggesting the possibility of experimental treatment in patients with pantothenate kinase-associated neurodegeneration. [ncbi.nlm.nih.gov]

MRI scans can also confirm a diagnosis; abnormal low intensities can indicate iron accumulation in the brain. [4] Prevention [ edit ] Children of affected individuals are obligate carriers for aceruloplasminemia. [en.wikipedia.org]

Homeostatic mechanisms are utilized to maintain appropriate serum iron concentrations, thus preventing neuronal cell damage from ironmediated free radicals. Several hereditary disorders, including aceruloplasminemia, can disrupt this homeostasis. [appliedradiology.com]

There is no known way to prevent it. Hallervorden-Spatz disease; Pantothenate kinase-associated neurodegeneration; PKAN; NBIA Gregory A, Hayflick S. Neurodegeneration with brain iron accumulation disorders overview. [nlm.nih.gov]

There’s no known way to prevent HSD. Genetic counseling is recommended for families with a history of the disease. [healthline.com]