Dysarthria, and Autistic behavior

Diseases related with Dysarthria and Autistic behavior

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55


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

Medium match MYOCLONIC-ASTASTIC EPILEPSY


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

Medium 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:

  • 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2


MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

Medium match RARS-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY


Hypomyelinating leukodystrophy-9 is an autosomal recessive neurologic disorder characterized by onset of delayed psychomotor development, spasticity, and nystagmus in the first year of life. Additional neurologic features such as ataxia and abnormal movements may also occur. Brain imaging shows diffuse hypomyelination affecting all regions of the brain (summary by Wolf et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RARS-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

Medium match CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME


Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.

CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME Is also known as capos syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME

Medium match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2; MC3DN2


Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life (summary by Ghezzi et al., 2011). The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances (Morino et al., 2014; Atwal, 2014; Nogueira et al., 2013).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2; MC3DN2

Medium match PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11


PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11

Medium match NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY


Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

Medium match FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME


Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME Is also known as fxtas syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Autistic behavior

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Dysarthria and Autistic behavior. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Dysmetria

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus

Common Symptoms - More than 50% cases


Gait ataxia

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Delayed speech and language development Dysphagia Generalized myoclonic seizures Cognitive impairment Aggressive behavior Hearing impairment Intellectual disability, mild Intention tremor Abnormal cerebellum morphology Limb ataxia Bradykinesia Behavioral abnormality Depressivity Hyperactivity Dystonia Peripheral neuropathy Muscle weakness Strabismus Dysdiadochokinesis Microcephaly Apraxia Autism Developmental regression Hemiparesis Hyperreflexia Cerebellar atrophy Cerebral cortical atrophy Status epilepticus Horizontal nystagmus Impaired social interactions

Rare Symptoms - Less than 30% cases


Abnormality of extrapyramidal motor function Stroke Diplopia Memory impairment Difficulty walking Drowsiness Episodic ataxia Spasticity Hypoplasia of the corpus callosum Bulbous nose Poor eye contact Diffuse cerebral atrophy Pes cavus Abnormality of the nervous system Incoordination Skeletal muscle atrophy Anxiety Abnormal pyramidal sign Brain atrophy Paraparesis Spastic paraparesis Obsessive-compulsive behavior Olivopontocerebellar atrophy Hyporeflexia Protruding ear Postural instability Truncal ataxia Vomiting Mental deterioration EEG abnormality Progressive cerebellar ataxia Encephalopathy Urinary incontinence Intellectual disability, severe Abnormal facial shape Motor delay Dysphasia Aphasia Attention deficit hyperactivity disorder Febrile seizures Epileptic encephalopathy Intellectual disability, moderate Edema Atonic seizures Absence seizures Blindness Large forehead Thick lower lip vermilion Depressed nasal ridge Pointed chin Infantile muscular hypotonia Brisk reflexes Palpebral edema Abnormal cortical gyration Nonprogressive cerebellar ataxia Poor motor coordination Broad nasal tip Progressive neurologic deterioration Positive Romberg sign Dandy-Walker malformation Abnormal social behavior Esotropia Broad-based gait Short stature Hypertelorism Cerebellar hypoplasia Low-set ears High palate Happy demeanor Macrocephaly Downslanted palpebral fissures Anteverted nares Long philtrum Constipation Narrow mouth Long face Gastroesophageal reflux Deeply set eye Poor coordination Neonatal hypotonia Molar tooth sign on MRI Stereotypy Broad forehead Unsteady gait Wide nose Hippocampal atrophy Narrow nasal tip Dysesthesia Abnormality of the thyroid gland Resting tremor Atrophy/Degeneration affecting the brainstem Bipolar affective disorder Urinary bladder sphincter dysfunction Action tremor Astrocytosis Disinhibition Kinetic tremor Saccadic smooth pursuit Global brain atrophy Poor fine motor coordination Pollakisuria Abnormality of brainstem morphology Abnormal nerve conduction velocity Impaired distal vibration sensation Diffuse cerebellar atrophy Obsessive-compulsive trait Retrocollis Inertia Subcortical dementia Bowel incontinence Agitation Mesiodens Myalgia Short ear Hypoplastic hippocampus Segmental myoclonic seizures Pain Hypertension Gait disturbance Dementia Hypothyroidism Rigidity Proximal muscle weakness Irritability Impotence Abnormality of the cerebral white matter Abnormality of movement Distal sensory impairment Parkinsonism Hypotension Abnormal autonomic nervous system physiology Premature ovarian insufficiency Apathy Postural tremor Mask-like facies Generalized muscle weakness Recurrent respiratory infections Inability to walk Poor head control Perisylvian polymicrogyria Speech apraxia Epileptic spasms Muscular hypotonia of the trunk Increased serum lactate Language impairment Lower limb spasticity Leukodystrophy CNS hypomyelination Personality disorder Generalized-onset seizure Focal-onset seizure Developmental stagnation Pseudobulbar paralysis Lower limb hypertonia Cerebral hypomyelination Hyperintensity of cerebral white matter on MRI Infantile axial hypotonia Progressive extrapyramidal movement disorder Transient unilateral blurring of vision Migraine without aura Sensorineural hearing impairment EEG with centrotemporal focal spike waves Photophobia Fever Confusion Paresthesia Vertigo Nausea Coma Migraine Continuous spike and waves during slow sleep Tinnitus Borderline personality disorder Hemiplegia Loss of consciousness Blurred vision Severe hearing impairment Restlessness Oromotor apraxia Agnosia Migraine with aura Phonophobia Absent smooth pursuit Visual impairment Anal atresia Myoclonus Psychosis Hallucinations Fasciculations Falls Generalized tonic-clonic seizures Dysphonia Abnormality of mitochondrial metabolism Axonal degeneration Scoliosis Peripheral axonal neuropathy Talipes equinovarus Hypertonia Agenesis of corpus callosum Headache Respiratory tract infection Coloboma Hypermetropia Poor speech Talipes Neurodegeneration Impulsivity Polymicrogyria Torticollis Optic atrophy Neurological speech impairment Areflexia Abnormality of the eye Lethargy Abnormality of eye movement Progressive visual loss Myoclonic atonic seizures EEG with abnormally slow frequencies Eyelid myoclonus Abnormal brain FDG positron emission tomography Progressive sensorineural hearing impairment Motor deterioration Anarthria Moderate hearing impairment Episodic generalized hypotonia Photosensitive tonic-clonic seizures EEG with spike-wave complexes (>3.5 Hz) Cerebral atrophy Babinski sign Impaired tandem gait



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Bradycardia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more