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]

[…] 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]

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]

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]

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]

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]

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]

[…] 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]

[…] 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]

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]

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]

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]

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]

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]

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]