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]

Clinical History The 54-year-old female presented with gait impairment and slurred speech. These abnormalities progressed over several years. [eurorad.org]

The disease may present in childhood and progress relentlessly culminating in early death [classical HSS] or may present in second or third decade with slow progression [atypical HSS].1 The predominant neurologic manifestations are extrapyramidal and [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]

• Rigor

  Rigorous analysis for acanthocytes is technically difficult and rarely used now that molecular genetic diagnosis has been available for several years. [ncbi.nlm.nih.gov]

  […] vitamin K deficiency of newborn (P53) Hyperpyrexia R50.9 ICD-10-CM Diagnosis Code R50.9 Fever, unspecified 2016 2017 2018 2019 2020 2021 2022 2023 Billable/Specific Code Applicable To Fever NOS Fever of unknown origin [FUO] Fever with chills Fever with rigors [icd10data.com]

• Problems at School

  NBIA mainly causes movement problems. [nlm.nih.gov]

• 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]

• 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]

• Hypotension

  Parkinsonism w orthostatic hypotension Parkinsonism with orthostatic hypotension Parkinsons variant Pigmentary pallidal degeneration Progressive supranuclear ophthalmoplegia Progressive supranuclear palsy Progressive supranuclear palsy; ophthalmoplegia [icd9data.com]

  (arterial) (constitutional) I95.9 ICD-10-CM Diagnosis Code I95.9 Hypotension, unspecified 2016 2017 2018 2019 2020 2021 2022 2023 Billable/Specific Code Hypothermia (accidental) T68 ICD-10-CM Diagnosis Code T68 Hypothermia 2016 2017 2018 2019 2020 2021 [icd10data.com]

• Visual Impairment

  Less common symptoms include painful muscle spasms, mental retardation, and visual impairment. Neurodegeneration Brain Iron Accumulation Syndrome; Late Infantile Neuroaxonal Dystrophy; Pantothenate Kinase-Associated Neurodegeneration. [accessanesthesiology.mhmedical.com]

  Neurodegeneration with Brain Iron Accumulation Clinical Characteristics Ocular Features: Optic atrophy is a major ocular feature and the primary cause of visual impairment. [disorders.eyes.arizona.edu]

  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]

• 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]

• Hematuria

  R31.9 ICD-10-CM Diagnosis Code R31.9 Hematuria, unspecified 2016 2017 2018 2019 2020 2021 2022 2023 Billable/Specific Code Hemeralopia (day blindness) H53.11 ICD-10-CM Diagnosis Code H53.11 Day blindness 2016 2017 2018 2019 2020 2021 2022 2023 Billable [icd10data.com]

• Dystonia

  At 2 months follow up, patient has shown only modest improvement of rigidity and dystonia without any improvement in speech. showing dystonia of the upper limbs and oromandibular dystonia MRI of brain showing area of hyperintensity within a region of [ncbi.nlm.nih.gov]

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

  Hallervorden-Spatz syndrome - a disorder characterized by dystonia with other extrapyramidal dysfunctions. [medical-dictionary.thefreedictionary.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]

  Symptoms such as drooling and dysarthria can be troublesome. Treat excessive drooling with a medication such as methscopolamine bromide. Dysarthria may respond to medications used for rigidity and spasticity. [advbiores.net]

• 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

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

  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]

  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]

  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]

• Mental Deterioration

  Senile chorea is a well recognised but poorly understood clinical entity characterised by a slowly progressive, generalised chorea in elderly people without mental deterioration or a clear underlying cause. [ncbi.nlm.nih.gov]

(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]

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]

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]

NBIA is further stratified into distinct disorders based on genetic etiology. [jns-journal.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]

His main research interest is in movement disorders, specifically the merging of clinical, electrophysiological and imaging methods to provide insights into the pathophysiology of conditions like dystonia and Parkinson's disease. [books.google.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]