Delayed speech and language development, and Progressive cerebellar ataxia
Diseases related with Delayed speech and language development and Progressive cerebellar ataxia
In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Progressive cerebellar ataxia that can help you solving undiagnosed cases.
Top matches:
High match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14
mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14 Is also known as cerebellar ataxia, autosomal recessive, spectrin-associated, 1;sparca1;ataxie spinocérébelleuse à début infantile avec retard psychomoteur; autosomal recessive spinocerebellar ataxia type 14; infantile-onset spinocerebellar ataxia-psychomotor delay syndrome; scar14; sparca; sparca1; spectrin-associated autosomal recessive cerebellar ataxia type 1
Related symptoms:
- Autosomal recessive inheritance
- Global developmental delay
- Ataxia
- Nystagmus
- Strabismus
SOURCES: ORPHANET UMLS DOID MONDO OMIM
More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14High match SPINOCEREBELLAR ATAXIA 29; SCA29
Spinocerebellar ataxia-29 is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012).Heterozygous mutation in the ITPR1 gene also causes SCA15 (OMIM ), which is distinguished by later age at onset and normal cognition.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).
SPINOCEREBELLAR ATAXIA 29; SCA29 Is also known as cerebellar ataxia, congenital nonprogressive, autosomal dominant;cnpca, cerebellar vermis aplasia, aplasia of cerebellar vermis;acv;congenital nonprogressive spinocerebellar ataxia; sca29
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
SOURCES: MESH OMIM GARD ORPHANET DOID SCTID MONDO UMLS
More info about SPINOCEREBELLAR ATAXIA 29; SCA29High match SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4 Is also known as ;autosomal recessive spastic ataxia type 4; spax4
Related symptoms:
- Autosomal recessive inheritance
- Ataxia
- Nystagmus
- Motor delay
- Delayed speech and language development
SOURCES: ORPHANET UMLS DOID GARD OMIM MONDO
More info about SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4Too many results?
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Other less relevant matches:
High match SPINOCEREBELLAR ATAXIA 35; SCA35
Spinocerebellar ataxia-35 is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia. The age at onset ranges from teenage years to late adulthood, and the disorder is slowly progressive. Additional features may include hand tremor, dysarthria, hyperreflexia, and saccadic eye movements (summary by Guo et al., 2014).
SPINOCEREBELLAR ATAXIA 35; SCA35 Is also known as ;sca35
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Ataxia
- Nystagmus
- Peripheral neuropathy
SOURCES: ORPHANET DOID OMIM SCTID GARD UMLS MONDO
More info about SPINOCEREBELLAR ATAXIA 35; SCA35High match SALLA DISEASE; SD
Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).
SALLA DISEASE; SD Is also known as sialuria, finnish type;
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
SOURCES: ORPHANET OMIM UMLS MONDO SCTID GARD NCIT
More info about SALLA DISEASE; SDHigh match EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD
Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
SOURCES: OMIM
More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESDHigh match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1
This form of autosomal recessive cerebellar ataxia is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia (Schurig et al., 1981; Glass et al., 2005).
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1 Is also known as cerebellar hypoplasia, vldlr-associated, cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1, cerebellar ataxia, congenital, and mental retardation, autosomal recessive, dysequilibrium syndrome;des;camrq syndrome; cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome; non-progressive cerebellar ataxia-intellectual disability syndrome
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
SOURCES: UMLS ORPHANET MONDO OMIM SCTID
More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1High match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B Is also known as neurodegeneration with brain iron accumulation, pla2g6-related, neuroaxonal dystrophy, atypical
Related symptoms:
- Autosomal recessive inheritance
- Seizures
- Generalized hypotonia
- Pica
- Ataxia
SOURCES: OMIM DOID MONDO GARD UMLS
More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2BHigh match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2
The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2 Is also known as cerebellar hypoplasia, nonprogressive norman type, cerebellar granular cell hypoplasia and mental retardation, congenital, cerebelloparenchymal disorder iii;cpd3, cpd iii;autosomal recessive spinocerebellar ataxia type 2; scar2
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET SCTID MONDO UMLS MESH DOID OMIM GARD
More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2High match 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1
Type I MGCA is a rare autosomal recessive disorder of leucine catabolism. The metabolic landmark is urinary excretion of 3-methylglutaconic acid (3-MGA) and its derivatives 3-methylglutaric acid (3-MG) and 3-hydroxyisovaleric acid (3-HIVA). Two main presentations have been described: 1 with onset in childhood associated with the nonspecific finding of psychomotor retardation, and the other with onset in adulthood of a progressive neurodegenerative disorder characterized by ataxia, spasticity, and sometimes dementia; these patients develop white matter lesions in the brain. However, some asymptomatic pediatric patients have been identified by newborn screening and show no developmental abnormalities when reexamined later in childhood (summary by Wortmann et al., 2010).
3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1 Is also known as mga, type i;mga1, 3-methylglutaconyl-coa hydratase deficiency, 3-mg-coa-hydratase deficiency;3-methylglutaconyl-coa hydratase deficiency; 3mg-coa hydratase deficiency; mga1
Related symptoms:
- Autosomal recessive inheritance
- Seizures
- Global developmental delay
- Microcephaly
- Ataxia
SOURCES: SCTID ORPHANET MONDO MESH OMIM NCIT UMLS GARD DOID
More info about 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1Top 5 symptoms//phenotypes associated to Delayed speech and language development and Progressive cerebellar ataxia
Symptoms // Phenotype | % cases |
---|---|
Ataxia | Very Common - Between 80% and 100% cases |
Dysarthria | Very Common - Between 80% and 100% cases |
Nystagmus | Very Common - Between 80% and 100% cases |
Autosomal recessive inheritance | Common - Between 50% and 80% cases |
Motor delay | Common - Between 50% and 80% cases |
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Other less frequent symptoms
Patients with Delayed speech and language development and Progressive cerebellar ataxia. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Hyperreflexia
Uncommon Symptoms - Between 30% and 50% cases
Global developmental delay
Common Symptoms - More than 50% cases
Cerebellar atrophy
Uncommon Symptoms - Between 30% and 50% cases
Gait ataxia
Common Symptoms - More than 50% cases
Dysmetria
Uncommon Symptoms - Between 30% and 50% cases
Seizures
Common Symptoms - More than 50% cases
Generalized hypotonia
Uncommon Symptoms - Between 30% and 50% cases
Dysdiadochokinesis
Common Symptoms - More than 50% cases
Intention tremor
Uncommon Symptoms - Between 30% and 50% cases
Intellectual disability
Common Symptoms - More than 50% cases
Spasticity
Uncommon Symptoms - Between 30% and 50% cases
Limb ataxia Tremor Unsteady gait Cognitive impairment Microcephaly Dystonia Babinski sign Pica Muscular hypotonia Intellectual disability, severe Neurodegeneration Cerebellar hypoplasia Falls Mental deterioration Intellectual disability, moderate Optic atrophy Autosomal dominant inheritance Hyperactivity Strabismus Infantile onset Intellectual disability, mild Truncal ataxia Slow progression Behavioral abnormality
Rare Symptoms - Less than 30% cases
Pes planus Frequent falls Cataract Paraparesis Emotional lability Gait disturbance Incoordination Abnormality of metabolism/homeostasis Toe walking Nonprogressive Short attention span Severe global developmental delay Urinary incontinence Tetraparesis Athetosis Spastic tetraparesis Cerebral atrophy Febrile seizures Gliosis Encephalopathy Spastic paraparesis Hyporeflexia Broad-based gait Abnormal pyramidal sign Abnormality of the eye Horizontal nystagmus Progressive gait ataxia Dysmetric saccades Congenital onset Poor speech Focal seizures Cerebral palsy Short stature Nonprogressive cerebellar ataxia Enlarged cisterna magna Dysphagia Progressive visual loss Dementia Acidosis Brain atrophy Chorea Choreoathetosis Muscular hypotonia of the trunk Progressive Leukoencephalopathy Coma Abnormality of the basal ganglia Hypertonia Feeding difficulties Bradykinesia Scissor gait 3-Methylglutaconic aciduria Gaze-evoked nystagmus Cortical gyral simplification Hyperchloremic acidosis Hypoplasia of the brainstem Abnormality of vision Pachygyria Arachnodactyly Abnormality of movement Hepatomegaly Absent speech Failure to thrive Neuronal loss in central nervous system Childhood onset Memory impairment Aciduria Gastroesophageal reflux Ocular albinism Hyperactive deep tendon reflexes Malabsorption Ranula Hypoglycemia Pes cavus Sensorineural hearing impairment Scoliosis Hearing impairment Abnormality of the cerebral white matter Aceruloplasminemia Metabolic acidosis Talipes calcaneovalgus Abnormality of the retinal vasculature Saccadic smooth pursuit Tetraplegia Confusion Impaired smooth pursuit Generalized hypopigmentation White hair Spastic tetraplegia Lewy bodies Dilated fourth ventricle Alzheimer disease Impulsivity Global brain atrophy Visual loss Neurofibrillary tangles Oligosacchariduria Skeletal muscle atrophy Movement abnormality of the tongue Truncal titubation Delayed social development Visual fixation instability Myoclonus Spastic ataxia Lower limb hypertonia Upper limb hypertonia Diffuse cerebellar atrophy Peripheral neuropathy Difficulty walking Adult onset Ophthalmoplegia Torticollis Neck muscle weakness Delayed fine motor development Abnormal saccadic eye movements Pseudobulbar paralysis Jerky ocular pursuit movements Abnormality of eye movement Sensory impairment Abnormality of extrapyramidal motor function Diplopia Slurred speech Hypometric saccades Abnormal cerebellum morphology Vertical nystagmus Oculomotor apraxia Focal seizures with impairment of consciousness or awareness Delayed gross motor development Cerebellar vermis atrophy Agenesis of cerebellar vermis Titubation Hand tremor Abnormality of the orbital region Continuous spike and waves during slow sleep Dysphasia Apraxia Epileptic encephalopathy Generalized seizures Status epilepticus Hemiparesis Language impairment Aphasia Generalized myoclonic seizures Epileptic spasms Speech apraxia Perisylvian polymicrogyria Agnosia Oromotor apraxia EEG with centrotemporal focal spike waves Migraine Polymicrogyria Growth delay Thickened calvaria Abnormality of the skeletal system Coarse facial features Rigidity Inability to walk Exotropia Clumsiness Vacuolated lymphocytes Autistic behavior Aspartylglucosaminuria Abnormal facial shape Milia Autism Developmental regression Attention deficit hyperactivity disorder Progressive forgetfulness
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