Global developmental delay, and Dysarthria

Diseases related with Global developmental delay and Dysarthria

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

Top matches:

Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993).PMG may be a feature of other conditions as well (see, e.g., {300643}).

BILATERAL PERISYLVIAN POLYMICROGYRIA Is also known as perisylvian syndrome, congenital bilateral|bpp|cbps|pmgx

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about BILATERAL PERISYLVIAN POLYMICROGYRIA

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55

A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-PSYCHOMOTOR DELAY SYNDROME Is also known as autosomal recessive spinocerebellar ataxia type 11|scar11

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-PSYCHOMOTOR DELAY SYNDROME

Other less relevant matches:

Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.

MYOCLONIC-ASTASTIC EPILEPSY Is also known as mae|emas|myoclonic atonic epilepsy|doose syndrome|epilepsy with myoclonic-astatic seizures|myoclonic-astatic epilepsy in early childhood|epilepsy with myoclonic-atonic seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOCLONIC-ASTASTIC EPILEPSY

Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012).For discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2

Spastic ataxia-8 with hypomyelinating leukodystrophy is an autosomal recessive progressive neurodegenerative disorder characterized by onset of primarily motor dysfunction within the first year of life. Affected individuals initially have hypotonia and later develop ataxia, spasticity, and a pyramidal syndrome with weakness and loss of ambulation. Other features may include dystonia, dysarthria, and abnormal eye movements. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy. One family with cognitive impairment has also been reported (summary by Chelban et al., 2017).For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8

Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.

CEREBELLAR ATAXIA, CAYMAN TYPE Is also known as cayman ataxia

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, CAYMAN TYPE

FAMILIAL INFANTILE MYOCLONIC EPILEPSY Is also known as fime|eim|familial infantile myoclonus epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL INFANTILE MYOCLONIC EPILEPSY

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA; CIAT

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

Top 5 symptoms//phenotypes associated to Global developmental delay and Dysarthria

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized tonic-clonic seizures Tremor Gait ataxia Generalized hypotonia Absence seizures Status epilepticus Generalized myoclonic seizures Mental deterioration Aggressive behavior Cerebellar atrophy Limb ataxia Truncal ataxia

Rare Symptoms - Less than 30% cases

Clumsiness Photosensitive tonic-clonic seizures Cerebellar vermis atrophy Parkinsonism Rigidity Developmental regression Abnormality of eye movement Febrile seizures Abnormality of the eye Impulsivity Myoclonus Atonic seizures Gait disturbance Motor delay Delayed speech and language development Dysphagia Intellectual disability, mild Broad-based gait Abnormal cerebellum morphology Dystonia Autistic behavior Attention deficit hyperactivity disorder Leber optic atrophy Dysmetria Hyperactivity Language impairment Muscle fibrillation EEG with irregular generalized spike and wave complexes Muscular hypotonia Head titubation Delayed fine motor development Cerebellar hypoplasia Intention tremor Focal-onset seizure Nonprogressive cerebellar ataxia Irritability Abnormal retinal morphology Behavioral abnormality Amblyopia Diplopia Intermittent microsaccadic pursuits Scanning speech Dysgraphia Cogwheel rigidity Slow saccadic eye movements Resting tremor Akinesia Postural tremor Apathy Fasciculations Abnormality of extrapyramidal motor function Optic nerve hypoplasia Progressive cerebellar ataxia Ophthalmoplegia Babinski sign Hyporeflexia Titubation Intellectual disability, severe Neoplasm Esophoria Gaze-evoked nystagmus Emotional lability Hypometric saccades Abnormality of movement Spastic ataxia Severe global developmental delay Epileptic encephalopathy Falls Scoliosis Abnormality of ocular smooth pursuit Gaze-evoked horizontal nystagmus Impaired smooth pursuit Involuntary movements Unsteady gait EEG abnormality EEG with spike-wave complexes (>3.5 Hz) Autism Facial tics Pseudobulbar signs Atypical absence seizures Perisylvian polymicrogyria Pseudobulbar paralysis Dyslexia Polymicrogyria Paralysis Abnormal brain FDG positron emission tomography Eyelid myoclonus Limb dystonia Choreoathetosis Leukodystrophy Neurodegeneration Abnormal pyramidal sign Hyperreflexia Spasticity Episodic quadriplegia Loss of consciousness Hemiplegia Abnormal autonomic nervous system physiology Hemiparesis EEG with abnormally slow frequencies Tetraparesis Generalized-onset seizure Migraine Chorea Tetraplegia Anxiety Depressivity Headache Myoclonic atonic seizures Microsaccadic pursuit


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