Global developmental delay, and Progressive cerebellar ataxia

Diseases related with Global developmental delay and Progressive cerebellar ataxia

In the following list you will find some of the most common rare diseases related to Global developmental delay and Progressive cerebellar ataxia that can help you solving undiagnosed cases.

Top matches:

Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.

SPINOCEREBELLAR ATAXIA TYPE 21 Is also known as sca21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Neoplasm


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 21

AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY Is also known as mild peroxismal disorder due to pex10 deficiency

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Dysarthria
  • Intellectual disability, mild
  • Pes cavus


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY

Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 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).

SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as infantile-onset spinocerebellar ataxia-psychomotor delay syndrome|cerebellar ataxia, autosomal recessive, spectrin-associated, 1|ataxie spinocÉrÉbelleuse À dÉbut infantile avec retard psychomoteur|spectrin-associated autosomal recessive cerebellar ataxia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 13; SCA13

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:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

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).

FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM Is also known as issd|sialuria, finnish type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY Is also known as arca2|autosomal recessive cerebellar ataxia type 2|spinocerebellar ataxia, autosomal recessive 9|scar9|autosomal recessive ataxia due to coenzyme q10 deficiency|autosomal recessive spinocerebellar ataxia type 9

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 7; SCA7 Is also known as opca iii|opca with macular degeneration and external ophthalmoplegia|adca, type ii|olivopontocerebellar atrophy iii|opca3|opca with retinal degeneration|autosomal dominant cerebellar ataxia, type ii

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 7; SCA7

Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|scar21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Progressive cerebellar ataxia

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Global developmental delay and Progressive cerebellar ataxia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Gait ataxia

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Tremor

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Spasticity Cognitive impairment Seizures Delayed speech and language development Motor delay Abnormal pyramidal sign Dysmetria Intellectual disability, moderate Intellectual disability, severe Abnormality of extrapyramidal motor function Clumsiness Limb ataxia Progressive gait ataxia Babinski sign Truncal ataxia Intellectual disability, mild Intention tremor Dysdiadochokinesis Muscular hypotonia Optic atrophy Strabismus

Rare Symptoms - Less than 30% cases

Abnormality of metabolism/homeostasis Skeletal muscle atrophy Developmental regression Microcephaly Cerebral palsy Abnormality of the eye Reduced visual acuity Dystonia Hearing impairment Sensory impairment Broad-based gait Dysmetric saccades Jerky ocular pursuit movements Behavioral abnormality Myoclonus Cerebellar vermis atrophy Diplopia Slow saccadic eye movements Ophthalmoplegia Pes cavus Rigidity Hyporeflexia Areflexia Increased intramyocellular lipid droplets Axonal degeneration Distal lower limb muscle weakness Central hypotonia Dementia Increased CSF lactate Generalized tonic seizures Epilepsia partialis continua Visual loss Talipes cavus equinovarus Focal T2 hypointense basal ganglia lesion Neurodevelopmental delay Ptosis Dysphagia Blindness Failure to thrive Muscle weakness Saccadic smooth pursuit Nonprogressive cerebellar ataxia Arachnodactyly Pachygyria Abnormality of vision Hypoplasia of the brainstem Toe walking Cortical gyral simplification Gaze-evoked nystagmus Proximal muscle weakness Retinopathy Muscular hypotonia of the trunk Stroke Lactic acidosis Increased serum lactate Gynecomastia EMG abnormality Exercise intolerance Brisk reflexes Mental deterioration Retinal degeneration Spastic paraplegia Hepatosplenomegaly Hepatic failure Paresthesia Head tremor Distal muscle weakness Spinocerebellar tract degeneration Olivopontocerebellar atrophy Abnormality of the liver Generalized limb muscle atrophy Distal sensory impairment Orofacial dyskinesia Splenomegaly Talipes equinovarus Fever Hepatomegaly Peripheral neuropathy Limb tremor Supranuclear ophthalmoplegia Poor speech Frequent falls Paraplegia External ophthalmoplegia Spinocerebellar atrophy Dyskinesia Chorea Progressive visual loss Neuronal loss in central nervous system Pigmentary retinopathy Macular degeneration Acute hepatic failure Hepatic fibrosis Foot dorsiflexor weakness Schizophrenia Incoordination Ophthalmoparesis Blurred vision Sensorimotor neuropathy Macular dystrophy Bipolar affective disorder Abnormality of movement EEG with centrotemporal focal spike waves Neonatal hypotonia Optic disc pallor Very long chain fatty acid accumulation Abnormality of phytanic acid metabolism Abnormality of eye movement Horizontal nystagmus Slurred speech Hypometric saccades Abnormal cerebellum morphology Impaired vibratory sensation Diffuse cerebellar atrophy Morphological abnormality of the pyramidal tract Titubation Limb dysmetria Abnormal facial shape Encephalopathy Hyperactivity Autism EEG abnormality Abnormal head movements Mydriasis Attention deficit hyperactivity disorder Akinesia Neoplasm Aggressive behavior Parkinsonism Fasciculations Apathy Postural tremor Impulsivity Resting tremor Motor axonal neuropathy Cogwheel rigidity Dysgraphia Scanning speech Intermittent microsaccadic pursuits Microsaccadic pursuit Type II diabetes mellitus Oculomotor apraxia Impaired smooth pursuit Autistic behavior Neurological speech impairment Pes planus Thickened calvaria Severe global developmental delay Generalized tonic-clonic seizures Inability to walk Tetraparesis Exotropia Spastic tetraparesis Athetosis Visceromegaly Abnormality of the skeletal system Vacuolated lymphocytes Oligosacchariduria Aspartylglucosaminuria Short stature Cataract Gait disturbance Absent speech Cerebellar hypoplasia Coarse facial features Growth delay Polymicrogyria Status epilepticus Generalized myoclonic seizures Urinary incontinence Focal-onset seizure Febrile seizures Epileptic encephalopathy Generalized-onset seizure Apraxia Hemiparesis Continuous spike and waves during slow sleep Language impairment Dysphasia Aphasia Epileptic spasms Speech apraxia Perisylvian polymicrogyria Agnosia Oromotor apraxia Stuttering


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