Dysarthria, and Cerebellar vermis hypoplasia

Diseases related with Dysarthria and Cerebellar vermis hypoplasia

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

Top matches:

X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.

X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA Is also known as scax5|x-linked spinocerebellar ataxia type 5

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY Is also known as autosomal recessive spinocerebellar ataxia type 13|scar13|autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY

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

Other less relevant matches:

Autosomal recessive spinocerebellar ataxia-17 is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variable intellectual disability (summary by Evers et al., 2016).

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY Is also known as scar17|spinocerebellar ataxia autosomal recessive type 17

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY

ATAXIA-TELANGIECTASIA-LIKE DISORDER Is also known as atld

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Delayed speech and language development
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about ATAXIA-TELANGIECTASIA-LIKE DISORDER

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.

ATAXIA-OCULOMOTOR APRAXIA TYPE 1 Is also known as aoa1|atld

Related symptoms:

  • Ataxia
  • Nystagmus
  • Neoplasm
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-OCULOMOTOR APRAXIA TYPE 1

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

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.

AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY Is also known as autosomal recessive spastic ataxia type 6|charlevoix-saguenay spastic ataxia|autosomal recessive spastic ataxia of charlevoix-saguenay|spax6|spastic ataxia 6, autosomal recessive|arsacs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY

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

Top 5 symptoms//phenotypes associated to Dysarthria and Cerebellar vermis hypoplasia

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Dysmetria Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Cerebellar vermis hypoplasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Cerebellar atrophy

Uncommon Symptoms - Between 30% and 50% cases

Gait ataxia

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Seizures Abnormal cerebellum morphology Intention tremor Oculomotor apraxia Delayed speech and language development Frequent falls Dysdiadochokinesis Hyperreflexia Unsteady gait Tremor Horizontal nystagmus Gaze-evoked nystagmus Myoclonus Dystonia Apraxia Hypoplasia of the corpus callosum Motor delay Truncal ataxia Cerebellar hypoplasia Babinski sign Short stature Strabismus Nonprogressive cerebellar ataxia

Rare Symptoms - Less than 30% cases

Microcephaly Absent Achilles reflex Falls Pes cavus Molar tooth sign on MRI Chorea Sensorimotor neuropathy Limb ataxia Agenesis of corpus callosum Hyporeflexia Vertical nystagmus Peripheral neuropathy Broad-based gait Abnormality of the nervous system Distal amyotrophy Progressive cerebellar ataxia Behavioral abnormality Lower limb spasticity Impaired smooth pursuit Poor speech Spasticity Coloboma Difficulty walking Dysphagia Skeletal muscle atrophy Cerebellar vermis atrophy Hypometric saccades Abnormal pyramidal sign Esotropia Intellectual disability, mild Frontal bossing Ventriculomegaly Clumsiness Gaze-evoked horizontal nystagmus Autistic behavior Titubation Blepharophimosis Agenesis of cerebellar vermis Focal impaired awareness seizure Vesicoureteral reflux Broad eyebrow Delayed gross motor development Cerebral visual impairment Low-set, posteriorly rotated ears Cerebral palsy Hearing impairment Focal-onset seizure Cognitive impairment Postnatal growth retardation Decreased number of large peripheral myelinated nerve fibers Gastroesophageal reflux Ventricular septal defect Low-set ears Feeding difficulties Visual impairment Delayed social development Epicanthus Intrauterine growth retardation Optic atrophy Downslanted palpebral fissures Anteverted nares Abnormal saccadic eye movements Delayed fine motor development Microphthalmia Truncal titubation Hypospadias Abnormal heart morphology Diffuse cerebellar atrophy Posteriorly rotated ears Scoliosis Autism Brachydactyly Muscle weakness Loss of Purkinje cells in the cerebellar vermis Hammertoe Decreased motor nerve conduction velocity Impotence Urinary urgency Progressive spasticity Progressive spastic paraplegia Micrognathia Impaired vibration sensation in the lower limbs Parietal cortical atrophy Arachnoid cyst Progressive gait ataxia Impaired tactile sensation Vitamin E deficiency Demyelinating peripheral neuropathy Decreased sensory nerve conduction velocity Upper motor neuron dysfunction Scanning speech Impaired vibratory sensation Abnormality of the pons Spastic ataxia Progressive truncal ataxia Swan neck-like deformities of the fingers Abnormality of the skeletal system EEG abnormality Distal muscle weakness Spastic paraplegia Abnormality of the foot Paraplegia Peripheral axonal neuropathy Distal sensory impairment Cone-shaped epiphysis Urinary incontinence Abnormality of the cerebellar peduncle Mitral valve prolapse Foot dorsiflexor weakness Absence seizures Decreased nerve conduction velocity Hypermyelinated retinal nerve fibers Abnormal motor evoked potentials Cryptorchidism Increased sensitivity to ionizing radiation Growth delay Intellectual disability, moderate Macrocephaly Polydactyly Polymicrogyria Postaxial polydactyly Tall stature Large for gestational age Elongated superior cerebellar peduncle Synophrys Abnormal facial shape Abnormality of movement Thick eyebrow Hemivertebrae Infantile muscular hypotonia Slurred speech Mild microcephaly Thoracic hemivertebrae Monotonic speech Depressed nasal bridge Hypertelorism Joint laxity Pes planus Neonatal hypotonia Action tremor Spastic dysarthria Saccadic smooth pursuit Generalized neonatal hypotonia Ptosis Absent speech Neurological speech impairment Abnormality of ocular abduction Abnormality of eye movement Polyneuropathy Intellectual disability, profound Difficulty standing Limb dysmetria Functional motor deficit Retrocerebellar cyst Inferior vermis hypoplasia Abnormality of the distal phalanx of the thumb Hypergonadotropic hypogonadism Happy demeanor Anal atresia Recurrent respiratory infections Hyperactivity Respiratory tract infection Protruding ear Attention deficit hyperactivity disorder Hypermetropia Talipes Bulbous nose Intellectual disability, severe Inability to walk Generalized muscle weakness Dandy-Walker malformation Progressive neurologic deterioration Stereotypy Poor eye contact Poor coordination Impaired social interactions Hypertonia Talipes equinovarus Reduced tendon reflexes Abnormality of ocular smooth pursuit Drooling Mask-like facies Hyperactive deep tendon reflexes Slow saccadic eye movements Orofacial dyskinesia Dilated fourth ventricle Dysmetric saccades Small posterior fossa Medial flaring of the eyebrow Enlarged interhemispheric fissure Neoplasm Gait disturbance Renal insufficiency Immunodeficiency Decreased antibody level in blood Telangiectasia Nephronophthisis Visual fixation instability


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