Dysarthria, and Intellectual disability, mild

Diseases related with Dysarthria and Intellectual disability, mild

In the following list you will find some of the most common rare diseases related to Dysarthria and Intellectual disability, mild 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

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Strabismus
  • Dysarthria
  • Tremor


SOURCES: OMIM MESH MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3

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

Other less relevant matches:

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

Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.

SPINOCEREBELLAR ATAXIA TYPE 29 Is also known as cnpca|aplasia of cerebellar vermis|congenital nonprogressive spinocerebellar ataxia|cerebellar vermis aplasia|sca29|cerebellar ataxia, congenital nonprogressive, autosomal dominant|acv

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 29

Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69 Is also known as spg69

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Cataract
  • Intellectual disability, mild
  • Agenesis of corpus callosum


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis.

SPINOCEREBELLAR ATAXIA TYPE 35 Is also known as sca35

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Delayed speech and language development
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 35

Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.

RAPID-ONSET DYSTONIA-PARKINSONISM Is also known as dyt12|dystonia-parkinsonism, rapid-onset|rdp|dystonia 12

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Motor delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPID-ONSET DYSTONIA-PARKINSONISM

Top 5 symptoms//phenotypes associated to Dysarthria and Intellectual disability, mild

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Dysarthria and Intellectual disability, mild. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Gait ataxia Delayed speech and language development Cerebellar atrophy Nystagmus Truncal ataxia Progressive cerebellar ataxia Unsteady gait Intention tremor Limb ataxia Oculomotor apraxia Broad-based gait Motor delay Dysmetria Abnormal cerebellum morphology Cognitive impairment

Rare Symptoms - Less than 30% cases

Frequent falls Dysdiadochokinesis Falls Abnormal pyramidal sign Abnormality of movement Pseudobulbar paralysis Progressive gait ataxia Diffuse cerebellar atrophy Horizontal nystagmus Generalized hypotonia Hand tremor Polymicrogyria Generalized tonic-clonic seizures Torticollis Dysphagia Delayed fine motor development Dysmetric saccades Cerebellar hypoplasia Strabismus Slurred speech Mental deterioration Focal-onset seizure Apraxia Polydactyly Abnormal facial shape Progressive spastic paraplegia Depressed nasal bridge Macrocephaly Babinski sign Frontal bossing Molar tooth sign on MRI Peripheral neuropathy Postaxial polydactyly Hypertelorism Spastic dysarthria Cerebellar vermis hypoplasia Abnormal myelination Tall stature Elongated superior cerebellar peduncle Aplasia/Hypoplasia of the cerebellar vermis Large for gestational age Difficulty walking Depressivity Intellectual disability, moderate Drooling Oculogyric crisis Personality disorder Craniofacial dystonia Abnormal posturing Weak voice Torsion dystonia Focal dystonia Hypomimic face Limb dystonia Resting tremor Emotional lability Dysphonia Mutism Progressive neurologic deterioration Ophthalmoplegia Bradykinesia Neuronal loss in central nervous system Gliosis Parkinsonism Postural instability Inability to walk Anxiety Dystonia Hypertonia Fever Abnormality of the orbital region Neck muscle weakness Incoordination Lower limb spasticity Jerky ocular pursuit movements Cerebral cortical atrophy Generalized myoclonic seizures Impaired smooth pursuit Type II diabetes mellitus Pes cavus EEG with irregular generalized spike and wave complexes Photosensitive tonic-clonic seizures Leber optic atrophy Muscle fibrillation Language impairment Absence seizures Clumsiness Febrile seizures Attention deficit hyperactivity disorder Mydriasis Irritability Developmental regression Aggressive behavior Myoclonus Gait disturbance Facial tics Pseudobulbar signs Atypical absence seizures Perisylvian polymicrogyria Dyslexia Paralysis Motor axonal neuropathy Abnormal head movements Agenesis of corpus callosum Gaze-evoked nystagmus Cataract Hearing impairment Visual fixation instability Delayed social development Truncal titubation Abnormal saccadic eye movements Vertical nystagmus Nonprogressive cerebellar ataxia Titubation Agenesis of cerebellar vermis Cerebellar vermis atrophy Focal impaired awareness seizure Very long chain fatty acid accumulation Delayed gross motor development Cerebral palsy Poor speech Hypometric saccades Diplopia Abnormality of extrapyramidal motor function Sensory impairment Abnormality of eye movement Abnormality of the eye Spasticity Abnormality of phytanic acid metabolism Retrocollis


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