Delayed speech and language development, and Dysarthria

Diseases related with Delayed speech and language development and Dysarthria

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


Top matches:

Medium match POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED; BPPX

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}).

POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED; BPPX Is also known as pmgx, bpp, perisylvian syndrome, congenital bilateral;cbps;

Related symptoms:

  • Cognitive impairment
  • Delayed speech and language development
  • Polymicrogyria
  • Generalized tonic-clonic seizures
  • X-linked dominant inheritance


SOURCES: ORPHANET OMIM SCTID UMLS MONDO

More info about POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED; BPPX

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15 Is also known as salih ataxia;autosomal recessive spinocerebellar ataxia type 15; scar15; salih ataxia

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus


SOURCES: DOID MONDO UMLS OMIM ORPHANET

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15

Medium match DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2

Torsion dystonia-2 is an autosomal recessive neurologic disorder characterized by onset of symptoms in childhood or adolescence. 'Dystonia' is characterized by involuntary, sustained muscle contractions affecting 1 or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. DYT2 first affects distal limbs and later involves the neck, orofacial, and craniocervical regions. DYT2 is slowly progressive but mild overall (summary by Muller and Kupke, 1990; Nemeth, 2002; Khan et al., 2003).

DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2 Is also known as dystonia musculorum deformans 2;dyt2

Related symptoms:

  • Autosomal recessive inheritance
  • Delayed speech and language development
  • Dysarthria
  • Gait disturbance
  • Tremor


SOURCES: GARD DOID ORPHANET UMLS MONDO NCIT OMIM MESH

More info about DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2

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Other less relevant matches:

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24

Related symptoms:

  • Autosomal recessive inheritance
  • Ataxia
  • Growth delay
  • Nystagmus
  • Cataract


SOURCES: UMLS MONDO OMIM

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24

Medium 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; SCAR14

Medium 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; SCA29

Medium match WAISMAN SYNDROME; WSMN

Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

WAISMAN SYNDROME; WSMN Is also known as parkinsonism, early-onset, with mental retardation, basal ganglion disorder with mental retardation;bgmr, wsn;laxova-opitz syndrome; waisman syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cognitive impairment


SOURCES: OMIM MONDO MESH UMLS SCTID GARD ORPHANET

More info about WAISMAN SYNDROME; WSMN

Medium match DYSTONIA 16; DYT16

Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.

DYSTONIA 16; DYT16 Is also known as ;dyt16; early-onset dystonia parkinsonism

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Motor delay
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: MESH GARD MONDO DOID SCTID OMIM UMLS ORPHANET

More info about DYSTONIA 16; DYT16

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS MONDO OMIM ORPHANET

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49

Medium match SPINOCEREBELLAR ATAXIA 44; SCA44

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Motor delay
  • Spasticity
  • Delayed speech and language development


SOURCES: MONDO DOID OMIM UMLS

More info about SPINOCEREBELLAR ATAXIA 44; SCA44

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Dysarthria

Symptoms // Phenotype % cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Dysarthria. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Gait ataxia Tremor Global developmental delay Seizures Nystagmus Progressive Intellectual disability Unsteady gait Spasticity Abnormal pyramidal sign Dysmetria Dysdiadochokinesis Limb ataxia Dysphagia

Rare Symptoms - Less than 30% cases


Abnormality of the eye Generalized dystonia Slurred speech Generalized hypotonia Horizontal nystagmus Truncal ataxia Intention tremor Abnormality of extrapyramidal motor function Sensory impairment Progressive cerebellar ataxia Generalized tonic-clonic seizures Rigidity Intellectual disability, mild Strabismus Poor speech Facial grimacing Slow progression Dystonia Abnormality of eye movement Bradykinesia Torticollis Delayed gross motor development Gait disturbance Parkinsonism Oxycephaly Dyskinesia Athetosis Dysphonia Megalencephaly Choreoathetosis Lewy bodies Neurological speech impairment Abnormality of movement Resting tremor Acrania Stroke Pain Cerebral calcification Cogwheel rigidity Shuffling gait Ischemic stroke Laryngeal dystonia Involuntary movements Hypoplasia of the corpus callosum Frequent falls Falls Difficulty walking Hearing impairment Progressive spasticity Drooling Postnatal microcephaly Narrow forehead Absent speech Encephalopathy Failure to thrive Postural tremor Microcephaly Retrocollis Limb pain Lower limb pain Craniofacial dystonia X-linked recessive inheritance Morphological abnormality of the pyramidal tract Limb dystonia Language impairment Akinesia Dementia Congenital onset Frontal bossing Myoclonus Infantile onset Spastic gait Cataract Growth delay Oromandibular dystonia Torsion dystonia Blepharospasm Mutism Juvenile onset Saccadic smooth pursuit Progressive gait ataxia Postural instability Intellectual disability, moderate Hyporeflexia Atypical absence seizures Pseudobulbar signs Pseudobulbar paralysis Dyslexia X-linked dominant inheritance Polymicrogyria Diplopia Dysmetric saccades Macrocephaly Agenesis of cerebellar vermis Visual fixation instability Delayed social development Truncal titubation Delayed fine motor development Diffuse cerebellar atrophy Abnormal saccadic eye movements Nonprogressive cerebellar ataxia Vertical nystagmus Titubation Cerebellar vermis atrophy Hypometric saccades Broad-based gait Focal seizures with impairment of consciousness or awareness Oculomotor apraxia Cerebral palsy Focal seizures Abnormal cerebellum morphology Cerebellar hypoplasia Autosomal dominant inheritance Jerky ocular pursuit movements Hypermetric saccades



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