In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

Physicians with whom the family may work include the pediatrician or internist, neurologist, pulmonologist, ophthalmologist, orthopedist, gastroenterologist and clinical geneticist. [nbiadisorders.org]

Physicians India. 49 : 343–8. PMID 11291974. CS1 maint: Multiple names: authors list ( link ) Ellis, R., Langford, D., and Masliah, E. (2007). "HIV and antiretroviral therapy in the brain: neuronal injury and repair". Nat. Rev. [en.wikipedia.org]

Am Fam Physician 59: 113–118, 125–126. PubMed Google Scholar Literatur 1. Lim SS et al. The use of low-dose prednisone in the management of rheumatoid arthritis. Bull Rheum Dis 2001; 50:1–4 PubMed Google Scholar 2. StClair EW. [link.springer.com]

walking Difficulty in walking 0002355 Dysarthria Difficulty articulating speech 0001260 Eye of the tiger anomaly of globus pallidus 0002454 Obsessive-compulsive behavior Obsessive compulsive behavior 0000722 Oromandibular dystonia 0012048 Parkinsonism [rarediseases.info.nih.gov]

[…] drugs for parkinsonism for: Adverse neuropsychiatric effects Psychiatric symptoms Worsening of parkinsonism Nutrition Monitoring of height and weight in children Swallowing evaluation and regular dietary assessments Assure adequate nutrition Prevent aspiration [nbiacure.org]

MalaCards based summary : Coasy Protein-Associated Neurodegeneration, also known as neurodegeneration with brain iron accumulation 6, is related to neurodegeneration with brain iron accumulation 6, and has symptoms including muscle rigidity, paraparesis [malacards.org]

rigidity 0002063 Spastic tetraplegia 0002510 Toe walking Toe-walking 0040083 Showing of 25 Last updated: 12/1/2018 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

Spasticity and muscle rigidity usually begin in the legs and later develop in the arms. Parkinsonism is a condition marked by tremor, slowness, rigidity and poor balance. [nbiadisorders.org]

diseases (4) Other Diseases Novel targets and therapeutics for genetic rare diseases, gut microbiome-related diseases, stroke and anemia (5) Cell Therapy Research on novel mesenchymal stem cell, novel somatic stem/progenitor cells, and adoptive T-cell [pharmanews.eu]

With vascular changes it is same thing: Right now with the best MRI and imaging tools, we can only detect certain types of vascular disease, and yet the kind we see in older people are tiny microinfarcts that we often miss. [alzforum.org]

Dystonia describes involuntary muscle cramping that may force certain body parts into unusual, and sometimes painful, movements and positions. [nbiadisorders.org]

Muscle spasms combined with decreased bone mass can result in bone fractures not caused by trauma or accident. [nbiadisorders.org]

Affiliated tissues include brain, caudate nucleus and thalamus, and related phenotypes are obsessive-compulsive behavior and dysarthria [malacards.org]

behavior Obsessive compulsive behavior 0000722 Oromandibular dystonia 0012048 Parkinsonism 0001300 Peripheral axonal neuropathy 0003477 Spastic paraparesis 0002313 5%-29% of people have these symptoms Pes cavus High-arched foot 0001761 Percent of people [rarediseases.info.nih.gov]

behavior CAUSE/GENETICS The human body is made up of millions of cells. [nbiacure.org]

behavior Not very common - Between 30% and 50% cases Paraplegia Commonly - More than 50% cases Motor axonal neuropathy Not very common - Between 30% and 50% cases Oromandibular dystonia And 26 more phenotypes. [mendelian.co]

The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. [rarediseases.info.nih.gov]

Patients typically present with a variety of symptoms including spastic-dystonic paraparesis, Parkinsonism, cognitive impairment, obsessive-compulsive disorder. Coenzyme A (CoA) synthase (gene: CoASY ) is a cofactor involved in enzymatic reactions. [radiopaedia.org]

[…] several doses each day In the intrathecal method, an implanted baclofen pump delivers medication directly into the spinal fluid Deep brain stimulation Used increasingly more often in NBIA and has some evidence for benefit A stimulator sends electrical impulses [nbiacure.org]

They are also more likely to have behavior changes, such as being impulsive, not being able to pay attention for long periods of time or becoming depressed, which may require treatment by a doctor. [nbiadisorders.org]

She has received many awards, among others the European Dystonia Society David Marsden Award and the AAN Jon Stolk Award in Movement Disorders for Young Investigators. [books.google.com]

The therapies for managing dystonia vary in method and success rate. [nbiacure.org]

The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.Visit the Orphanet [malacards.org]

The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. [rarediseases.info.nih.gov]

Unlike classic INAD, these “atypical” individuals usually have dystonia. [nbiadisorders.org]

The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.Visit the Orphanet [malacards.org]

The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. [rarediseases.info.nih.gov]

The cognitive impairment is ascertained by medical history, mental status examination or neuropsychological testing. Cognitive impairments identified in 1 interfere markedly with day-to-day functioning. [en.wikipedia.org]

Patients typically present with a variety of symptoms including spastic-dystonic paraparesis, Parkinsonism, cognitive impairment, obsessive-compulsive disorder. Coenzyme A (CoA) synthase (gene: CoASY ) is a cofactor involved in enzymatic reactions. [radiopaedia.org]

impairment More research is needed to determine the level of impairment Obsessive-compulsive behavior CAUSE/GENETICS The human body is made up of millions of cells. [nbiacure.org]

[…] summary : Coasy Protein-Associated Neurodegeneration, also known as neurodegeneration with brain iron accumulation 6, is related to neurodegeneration with brain iron accumulation 6, and has symptoms including muscle rigidity, paraparesis, spastic and bradykinesia [malacards.org]

0001300 Peripheral axonal neuropathy 0003477 Spastic paraparesis 0002313 5%-29% of people have these symptoms Pes cavus High-arched foot 0001761 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Bradykinesia [rarediseases.info.nih.gov]

[…] including stuttering, slurring, or soft or raspy speech Axonal neuropathy Nerve cells begin to function abnormally because the axons (which send signals from one nerve cell to another) are deteriorating Parkinsonism (symptoms similar to Parkinson’s disease) Bradykinesia [nbiacure.org]

Top 5 symptoms associated to COASY gene Symptoms // Phenotype % Cases Autosomal recessive inheritance Very Common - Between 80% and 100% cases Toe walking Very Common - Between 80% and 100% cases Tetraplegia Very Common - Between 80% and 100% cases Bradykinesia [mendelian.co]

The same is true for someone with bilateral rigidity and bradykinesia who fails to respond to levodopa and has some sort of nonspecific, undiagnosable visual symptoms or dizziness. [psp-blog.org]

Affiliated tissues include brain, caudate nucleus and thalamus, and related phenotypes are obsessive-compulsive behavior and dysarthria [malacards.org]

The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. [rarediseases.info.nih.gov]

(stiff or rigid muscles), dystonia (involuntary muscle contraction and spasms), and weakness Develops early in the disease Oro-mandibular dystonia Involuntarily muscle contraction and spasms of the mouth, jaw and tongue Develops later in the disease Dysarthria [nbiacure.org]

Dystonia affects the muscles in the mouth and throat, which may cause poor articulation and slurring (dysarthria), and difficulty swallowing (dysphagia). [nbiadisorders.org]

•FAHN typically begins with focal dystonia and gait impairment. • Ataxia follows, and dysarthria and progressive spastic quadriparesis with pyramidal tract signs develop. [slideshare.net]

More info about this panel Spastic Paraplegia Panel Panel By Blueprint Genetics in Finland. [mendelian.co]

[…] bpg-method Plus Analysis (Sequence Del/Dup (CNV)) Test code: S02224 Phenotype information Neurodegeneration with brain iron accumulation 6 Alternative gene name DPCK, NBP, CoASY, PPAT Panels that include the gene Ataxia Panel Spastic Paraplegia Panel [blueprintgenetics.com]

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. [ncbi.nlm.nih.gov]

•FA2H-genemutations have also been associated with leukodystrophies and hereditary spastic paraplegia, thus leading to an overlapping clinical picture. 57. [slideshare.net]