Symptoma

Childhood-Onset Idiopathic Basal Ganglia Calcification

IBGC Childhood Onset

New bulleted "Key Points" summaries present crucial information at a glance. A new two-color interior design greatly enhances the readability of differential diagnosis and treatment algorithms. [books.google.com]

The classic presentation of the disease, with its onset in the fourth decade of life and predominant neurological symptoms, should not be confused with a first break of schizophrenia. [checkorphan.org]

We present a case of a 55-year-old male who presented with the psychotic feature, bilateral tremors of hand and bilateral symmetrical calcification of basal ganglia. [ijpm.info]

Patients 1 and 5 presented with unilateral symptoms. Considering that calcifications are bilateral, they should generally present with symmetrical symptoms and signs. [nature.com]

  • Developmental Delay

    delay ; Infantile onset ; Intellectual disability, progressive ; Intellectual disability, severe ; Limb joint contracture ; Microcephaly ; Seizures ; Short stature ; Spasticity ; Tetraplegia Associated Genes - Mouse Orthologs - Source OMIM:114100 (names [mousephenotype.org]

    delay 0001263 Infantile onset Onset in first year of life Onset in infancy [ more ] 0003593 Intellectual disability, progressive Mental retardation, progressive Progressive mental retardation [ more ] 0006887 Intellectual disability, severe Early and [rarediseases.info.nih.gov]

    SPINOCEREBELLAR ATAXIA 13; SCA13 Is also known as ;sca13 Related symptoms: Autosomal dominant inheritance Intellectual disability Seizures Global developmental delay Short stature SOURCES: SCTID ORPHANET MESH OMIM UMLS DOID GARD MONDO More info about [mendelian.co]

    Seizures, either local or generalized, are common manifestations (83%) that often manifest during the early years of life, whereas neurological deficits (65%), glaucoma (60%), and developmental delay (43%) are less frequent (Sujansky and Conradi 1995) [rrnursingschool.biz]

    Etiology of Fahr’s syndrome Inherited congenital or early onset syndromes Cockayne syndrome CS TYPE I It comprises of developmental delay, hearing and visual loss, CNS and PNS disabilities along with Intracranial calcification of basal ganglia [ 17, 35 [ojrd.biomedcentral.com]

  • Physician

    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]

    *Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians. [medscape.com]

    Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history. References JNNP - Sign In Page T. [wikidoc.org]

    Consult your personal physician or other professional health care provider when seeking individualized treatment regarding your medical diagnosis or condition. [varsome.com]

    A new basis for classifying the dystonias has been proposed based on a consensus achieved by an international expert group of physicians (Albanese A, et al. 2013). [rarediseases.org]

  • Short Stature

    […] calcifications in the cerebellar dentate nucleus ; Dolichocephaly ; Dysarthria ; Global developmental delay ; Infantile onset ; Intellectual disability, progressive ; Intellectual disability, severe ; Limb joint contracture ; Microcephaly ; Seizures ; Short [mousephenotype.org]

    stature Decreased body height Small stature [ more ] 0004322 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Tetraplegia Paralysis of all four limbs 0002445 Showing of 19 Last updated: 5/1/2019 If you need medical advice, you can [rarediseases.info.nih.gov]

    Diseases related with Short stature and Abnormality of extrapyramidal motor function In the following list you will find some of the most common rare diseases related to Short stature and Abnormality of extrapyramidal motor function that can help you [mendelian.co]

    Short stature. Round face. Short neck. Shortening of the metacarpals and metatarsals. Hypothyroidism. Diabetes mellitus. Gonadal dysgenesis. [patient.info]

    In addition to PHP, patients may have other manifestations of Albright's hereditary osteodystrophy (short stature, round facies, obesity, soft tissue calcification, and short metacarpals or metatarsals) [ Aurbach et al 1971 ]. [canglish1.tripod.com]

  • Progressive Dementia

    Also, the typical presentation of so-called childhood-onset Huntington’s disease, characterized by rigidity instead of chorea, cerebellar signs, and rapidly progressive dementia, should not be confused with a first break of schizophrenia. [checkorphan.org]

    Symptoms often begin insidiously in the third through the fifth decades and are characterized by progressive chorea, dystonia, eye movement abnormalities, behavioral changes, and progressive dementia. [neupsykey.com]

    A rare form of frontotemporal dementia with neurofibrillary tangles and Fahr’s type calcification was observed in a 50 year old Japanese woman who showed up with progressive dementia but neither extrapyrimidal symptoms nor metabolic disorder were observed [ojrd.biomedcentral.com]

  • Progressive Mental Retardation

    Mental retardation, progressive Progressive mental retardation [ more ] 0006887 Intellectual disability, severe Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ] 0010864 Limb joint contracture Limb contractures [rarediseases.info.nih.gov]

  • Hoarseness

    Pitch breaks, hoarseness, limited intensity range, and poor intensity control are present in all three types [ 289 ]. It has been proposed that SD is a continuum disorder in which both types of spasms occur with differing frequencies [ 58 ]. [neupsykey.com]

  • Blepharospasm

    working together to improve the lives of people with cervical dystonia, blepharospasm, spasmodic dysphonia, craniofacial dystonia, and limb dystonia through research. [rarediseases.info.nih.gov]

    […] stimulus-sensitive, may persist during sleep Rapid, sudden, unpredictable, coordinated jerks preceded by inner urge, waxing and waning, temporarily suppressible Often associated with akathisia (sensory and motor restlessness) Torticollis, writer’s cramp, blepharospasm [musculoskeletalkey.com]

    BLEPHAROSPASM Blepharospasm is characterized by intermittent or sustained spontaneous forceful eye closure that may render the patient functionally blind [ 60, 168 ]. [neupsykey.com]

    Synonyms of Dystonia Torsion Dystonia Subdivisions of Dystonia Blepharospasm (Benign Essential Blepharospasm[BEB]) Cervical Dystonia (Spasmodic Torticollis[ST]) Acquired Dystonia Dopa-responsive Dystonia (DRD) DYT1-Reated Dystonia Focal Dystonia Generalized [rarediseases.org]

  • Small Head

    Child onset symptoms include mental impairment, psychiatric disorders, movement abnormalities, small head size, increased muscle tone, continuous and repetitive involuntary movements, spastic paralysis, eye disease, and limb shortening. [diseaseinfosearch.org]

    […] calcification- childhood onset The list of signs and symptoms mentioned in various sources for Idiopathic basal ganglia calcification, childhood onset includes the 9 symptoms listed below: Mental retardation Extrapyramidal signs Brain calcification Small [checkorphan.org]

    head circumference [ more ] 0000252 Seizures Seizure 0001250 Short stature Decreased body height Small stature [ more ] 0004322 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Tetraplegia Paralysis of all four limbs 0002445 Showing [rarediseases.info.nih.gov]

    Dementia Mental retardation Spastic paralysis Dysarthria (poorly articulated speech) Athetosis (involuntary, writhing movements) Eye impairments Optic atrophy Small head Round head Extrapyramidal disorder (defects in basal ganglia functioning) Tremors [steadyhealth.com]

  • Dolichocephaly

    […] extrapyramidal motor function ; Autosomal dominant inheritance ; Autosomal recessive inheritance ; Basal ganglia calcification ; Calcification of the small brain vessels ; Decreased body weight ; Dense calcifications in the cerebellar dentate nucleus ; Dolichocephaly [mousephenotype.org]

    […] calcification 0002135 Calcification of the small brain vessels 0002504 Decreased body weight Decreased weight Low body weight Low weight Weight less than 3rd percentile [ more ] 0004325 Dense calcifications in the cerebellar dentate nucleus 0002461 Dolichocephaly [rarediseases.info.nih.gov]

  • Decrease in Height

    […] body height Small stature [ more ] 0004322 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Tetraplegia Paralysis of all four limbs 0002445 Showing of 19 Last updated: 5/1/2019 If you need medical advice, you can look for doctors [rarediseases.info.nih.gov]

  • Narrow Face

    face Stereotypy External ophthalmoplegia Cachexia Redundant skin Mask-like facies Myopathic facies Delayed myelination Chronic constipation Speech apraxia Ileus Impaired social interactions Urethral stenosis Duodenal ulcer Abnormality of creatine metabolism [mendelian.co]

  • Cerebellar Sign

    Also, the typical presentation of so-called childhood-onset Huntington’s disease, characterized by rigidity instead of chorea, cerebellar signs, and rapidly progressive dementia, should not be confused with a first break of schizophrenia. [checkorphan.org]

    Other neurologic manifestations included cognitive impairment, cerebellar signs, speech disorder, pyramidal signs, psychiatric features, gait disorders, sensory changes, and pain. [consultant360.com]

    Cerebellar signs and scoliosis has also been described in some patients with dopa-responsive dystonia [ 64 ]. DYT14 is a genetic defect that can also lead to dopa-responsive dystonia [ 146 ]. [neupsykey.com]

    Prion disease may also present with behavioral or psychiatric symptoms, cognitive impairment, visual disturbance, cerebellar signs, myoclonus, and rigidity and other neurological signs, evolving to mutism and immobility. [movementdisorders.org]

    Patients may also show pyramidal or cerebellar signs and in some cases, the cerebellar picture predominates [ Aiello et al 1981 ]. Dystonia is prominent in a few families [ Caraceni et al 1974, Larsen et al 1985 ]. [canglish1.tripod.com]

  • Extrapyramidal Symptoms

    Most common presentation are seizures, although rarely they present with extrapyramidal symptoms and neuropsychiatric signs. [omicsonline.org]

    In a survey of 72 patients with intracranial calcifications, Kazis reported that extrapyramidal symptoms were present in 15(20.8%) patients, while in another study the frequency of extrapyramidal symptoms was calculated to be 56% [ 23, 25 ]. [ojrd.biomedcentral.com]

    symptoms. 1,41 Annual neuropsychiatric assessments are also advised. 1 Conclusion FIBGC is a debilitating neurodegenerative disease in which sporadic cases can present in geriatric patients, with or without a documented family history of the condition [consultant360.com]

    Neuroleptic medication should be used cautiously, since it may potentiate extrapyramidal symptoms [ Cummings et al 1983 ]. [canglish1.tripod.com]

  • Spastic Paralysis

    Child onset symptoms include mental impairment, psychiatric disorders, movement abnormalities, small head size, increased muscle tone, continuous and repetitive involuntary movements, spastic paralysis, eye disease, and limb shortening. [diseaseinfosearch.org]

    paralysis, eye impairments, and athetosis (involuntary, writhing movements). [wikidoc.org]

    Dementia Mental retardation Spastic paralysis Dysarthria (poorly articulated speech) Athetosis (involuntary, writhing movements) Eye impairments Optic atrophy Small head Round head Extrapyramidal disorder (defects in basal ganglia functioning) Tremors [steadyhealth.com]

  • Spastic Quadriplegia

    quadriplegia Pseudobulbar signs Lower limb hyperreflexia Punctate periventricular T2 hyperintense foci Urinary bladder sphincter dysfunction Head tremor Spastic ataxia Tip-toe gait Head titubation Erratic myoclonus Exaggerated startle response Strabismus [mendelian.co]

  • Quadriplegia

    Autistic behavior Hypermetropia Rotary nystagmus Polyneuropathy Motor deterioration Fasciculations Distal amyotrophy Abnormal involuntary eye movements Hyperacusis Hypodontia Peripheral demyelination Cherry red spot of the macula Progressive spastic quadriplegia [mendelian.co]

However, traditional one-by-one genetic testing facilitating the diagnostic workup is increasingly replaced by simultaneous gene testing using next-generation multiple gene panels and whole exome/genome sequencing. [movementdisorders.org]

While a full endocrine workup revealed no overt abnormalities, genetic analysis identified a previously reported mutation in the SLC20A2 gene (c.1753 G   A) 3. [nature.com]

Routine hematologic and biochemical investigations, as well as workup for metabolic, inflammatory, and infectious conditions, do not disclose specific abnormalities. [canglish1.tripod.com]

Thorough coverage for each neurological disease clearly defines age at onset, course of illness, clinical features, and treatment options. Differential diagnosis tables and treatment algorithms expedite clinical decision making. [books.google.com]

If your child has been diagnosed with basal ganglia calcification, talk with your pediatrician and specialists about the most current treatment options. [diseaseinfosearch.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Treatment - Idiopathic basal ganglia calcification- childhood onset Not supplied. Resources - Idiopathic basal ganglia calcification- childhood onset Not supplied. [checkorphan.org]

Treatment was well-accepted by all patients, with no reported adverse effects. An initial concern was that, for unknown reasons, alendronate treatment could trigger new symptoms; this was not the case. [nature.com]

Diagnosis - Idiopathic basal ganglia calcification- childhood onset Home medical testing related to Idiopathic basal ganglia calcification, childhood onset: Cold & Flu: Home Testing: Home Fever Tests Home Ear Infection Tests Home Flu Tests Prognosis - [checkorphan.org]

Treatment and Prognosis FS has no cure and does not have a standardized treatment regimen. Current therapies are mainly targeted towards the symptoms and complications associated with the condition. [news-medical.net]

Prognosis There is no cure for Fahr’s Syndrome, nor is there a standard course of treatment. Treatment addresses symptoms on an individual basis. [wikidoc.org]

Prognosis The regular monitoring required to ensure appropriate calcium levels means that the prognosis is challenging for many people. This may improve if synthetic PTH becomes widely available. [patient.info]

It is noteworthy that the prognosis is variable, cannot be predicted and is unrelated to the extent of calcifications [ 11 ]. Death is usually due to neurological deterioration [ 11 ]. [omicsonline.org]

More extensive calcification and subarachnoid space dilatation correlate with the presence of psychiatric manifestations, but calcific distribution and etiology do not. [ijpm.info]

The etiology of our case patient’s calcification was idiopathic, so her treatment was mainly supportive. [consultant360.com]

Ataxia, titubation, dysdiadochokinesia, loss of check and other cerebellar or brainstem signs “Milkmaid’s grip,” darting tongue, orofacial dyskinesia, hypotonia, pendular or “hung-up” reflexes, dementia in Huntington disease, carditis in Sydenham chorea Etiology [musculoskeletalkey.com]

The condition is predominantly found to be autosomal-dominant. [1] The etiology of Fahr's disease is very complex and still remains unknown. However, calcium deposits are the major elements responsible for the radiological appearance of the disease. [neurologyindia.com]

All etiological factors were combined in Table 1 Table 1 Etiological manifestations of Fahr’s syndrome 1 Endocrine disorders Idiopathic hypoparathyrodism Secondary hypoparathyrodism, Pseudohypoparathyroidism Pseudo-pseudohypoparathyroidism Hyperparathyroidism [ojrd.biomedcentral.com]

Epidemiology This is a rare disorder. Found equally in males and females. Age of onset depends on the aetiology. Aetiology Hypoparathyroidism may be transient, congenital/genetically inherited or acquired. [patient.info]

PubMed View Article Google Scholar Trenkwalder C, Schwarz J, Gebhard J, Ruland D, Trenkwalder P, Hense HW, Oertel WH: Starnberg trial on epidemiology of Parkinsonism and hypertension in the elderly. [ojrd.biomedcentral.com]

We reviewed the literature and discussed the pathophysiology, differential diagnosis and treatment of this disorder. [content.iospress.com]

Pathophysiology and Diagnostic Criteria for FS Heterogeneity in FS has been suggested due to three possible chromosomal loci being identified. [news-medical.net]

The molecular pathophysiology is not fully understood. [movementdisorders.org]

Insulin dysregulation and changes in insulin action have been of concern in the pathophysiology and clinical symptomatology of PD. [7] Therefore, we propose that for patients with Fahr's disease, genetic factors play a key role in the development of BGCs [neurologyindia.com]

The pathophysiological mechanisms leading to Bilateral Calcification. Only rare data are available on the early events leading to bilateral calcification. 2. The development of safe and effective medical treatments. [ojrd.biomedcentral.com]

Prevention - Idiopathic basal ganglia calcification- childhood onset Not supplied. [checkorphan.org]

Finding these genes could lead to effective ways to treat and prevent Fahr’s Syndrome. Source This article is based on a Q&A website prepared by NINDS [1], part of the National Institutes of Health located in Bethesda, Maryland. [wikidoc.org]

Treatment is usually directed to this identifiable cause [ 10 ] and can prevent calcifications and neurophysiological disorders [ 3, 5 ]. [omicsonline.org]

M4 mentioned he recognized that his life was not only for himself and began to pay more attention to his health to prevent the disease progression, not only for himself but also for his wife. [springerplus.springeropen.com]

Prevention Close monitoring of patients undergoing thyroid or neck surgery, radiotherapy to the neck or chest and chemotherapy treatment for symptoms and signs of hypocalcaemia. [patient.info]