Dysarthria, and Dandy-Walker malformation

Diseases related with Dysarthria and Dandy-Walker malformation

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

Top matches:

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

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Other less relevant matches:

The autosomal dominant cerebellar degenerative disorders are generally referred to as 'spinocerebellar ataxias,' (SCAs) even though 'spinocerebellar' is a hybrid term, referring to both clinical signs and neuroanatomical regions (Margolis, 2003). Neuropathologists have defined SCAs as cerebellar ataxias with variable involvement of the brainstem and spinal cord, and the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord (Schols et al., 2004; Taroni and DiDonato, 2004).Historically, Harding (1982) proposed a clinical classification for autosomal dominant cerebellar ataxias (ADCAs). ADCA I was characterized by cerebellar ataxia in combination with various associated neurologic features, such as ophthalmoplegia, pyramidal and extrapyramidal signs, peripheral neuropathy, and dementia, among others. ADCA II was characterized by the cerebellar ataxia, associated neurologic features, and the additional findings of macular and retinal degeneration. ADCA III was a pure form of late-onset cerebellar ataxia without additional features. SCA1, SCA2 (OMIM ), and SCA3, or Machado-Joseph disease (OMIM ), are considered to be forms of ADCA I. These 3 disorders are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively. SCA7 (OMIM ), caused by a CAG repeat expansion in the ATXN7 gene (OMIM ) on chromosome 3p13-p12, is a form of ADCA II. SCA5 (OMIM ), SCA31 (OMIM ), SCA6 (OMIM ), and SCA11 (OMIM ) are associated with phenotypes most suggestive of ADCA III. However, Schelhaas et al. (2000) noted that there is significant phenotypic overlap between different forms of SCA as well as significant phenotypic variability within each subtype.Classic reviews of olivopontocerebellar atrophies and of inherited ataxias in general include those of Konigsmark and Weiner (1970), who identified 5 types of olivopontocerebellar atrophy, Berciano (1982), Harding (1993), Schelhaas et al. (2000), and Margolis (2003).

SPINOCEREBELLAR ATAXIA 1; SCA1 Is also known as opca i|opca1|opca4|olivopontocerebellar atrophy i|spinocerebellar atrophy i|opca iv|menzel type opca|olivopontocerebellar atrophy iv|cerebelloparenchymal disorder i|schut-haymaker type opca|cpd1

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 1; SCA1

Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs.

MACHADO-JOSEPH DISEASE TYPE 1 Is also known as spinocerebellar ataxia type 3, joseph type|sca3, joseph type

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about MACHADO-JOSEPH DISEASE TYPE 1

Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.

MACHADO-JOSEPH DISEASE TYPE 2 Is also known as sca3, thomas type|spinocerebellar ataxia, thomas type

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about MACHADO-JOSEPH DISEASE TYPE 2

Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.

MACHADO-JOSEPH DISEASE TYPE 3 Is also known as sca3, machado type|spinocerebellar ataxia type 3, machado type

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about MACHADO-JOSEPH DISEASE TYPE 3

The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3 Is also known as cpd iii|scar2|cpd3|cerebellar granular cell hypoplasia and mental retardation, congenital|autosomal recessive spinocerebellar ataxia type 2|cerebellar hypoplasia, nonprogressive norman type|cerebelloparenchymal disorder iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3

Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (OMIM ), SCA2, and SCA3, or Machado-Joseph disease (OMIM ). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 2; SCA2 Is also known as wadia-swami syndrome|spinocerebellar ataxia, cuban type|olivopontocerebellar atrophy, holguin type|spinocerebellar degeneration with slow eye movements|olivopontocerebellar atrophy ii|spinocerebellar atrophy ii|cerebellar degeneration with slow eye moveme

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 2; SCA2

Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Top 5 symptoms//phenotypes associated to Dysarthria and Dandy-Walker malformation

Symptoms // Phenotype % cases
Dilated fourth ventricle Very Common - Between 80% and 100% cases
Spasticity Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases
Progressive cerebellar ataxia Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Dandy-Walker malformation. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Dysphagia

Uncommon Symptoms - Between 30% and 50% cases

Gaze-evoked nystagmus

Common Symptoms - More than 50% cases

Ataxia

Uncommon Symptoms - Between 30% and 50% cases

Skeletal muscle atrophy

Common Symptoms - More than 50% cases

Dystonia

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Hyperreflexia

Uncommon Symptoms - Between 30% and 50% cases

Dysmetria Supranuclear ophthalmoplegia Gait ataxia Chorea Diplopia Abnormality of extrapyramidal motor function Spinocerebellar tract degeneration Limb ataxia Dysdiadochokinesis Hyporeflexia Babinski sign Abnormal cerebellum morphology Cognitive impairment Incoordination Peripheral neuropathy Sleep disturbance Global developmental delay Clumsiness Facial-lingual fasciculations Dysmetric saccades Tremor Motor delay Substantia nigra gliosis Abnormality of temperature regulation Upper motor neuron dysfunction Slow saccadic eye movements Degeneration of the striatum Progressive gait ataxia Nystagmus Muscular hypotonia Progressive external ophthalmoplegia Neurogenic bladder Dementia Neurodegeneration Neuronal loss in central nervous system Distal lower limb amyotrophy Seizures Vocal cord paralysis Abnormal pyramidal sign Muscle cramps Memory impairment Vestibular dysfunction Proptosis Intellectual disability Short stature Progressive neurologic deterioration Myoclonus Broad-based gait

Rare Symptoms - Less than 30% cases

Fasciculations Poor coordination Impaired vibratory sensation Abnormality of eye movement Hyperactivity Olivopontocerebellar atrophy Difficulty walking Generalized-onset seizure Cerebellar vermis atrophy Bradykinesia Impaired horizontal smooth pursuit Optic atrophy Pes cavus Truncal ataxia Ophthalmoplegia Retinal degeneration Distal amyotrophy Gliosis Mental deterioration Urinary bladder sphincter dysfunction Visual impairment Rigidity Behavioral abnormality Intention tremor Hyperactive deep tendon reflexes Microcephaly Scoliosis Gait disturbance Oculomotor apraxia Drooling Generalized hypopigmentation Action tremor White hair Resting tremor Abnormality of the retinal vasculature Enlarged cisterna magna Pontocerebellar atrophy Postural tremor Hypopnea Spinal muscular atrophy Hypometric saccades Saccadic smooth pursuit Poor head control Sensory neuropathy Apnea Pallor Retinopathy Neonatal hypotonia Dyskinesia Rod-cone dystrophy Postural instability Abnormality of the eye Parkinsonism Nevus Cerebral atrophy Flexion contracture Pigmentary retinopathy Nonprogressive cerebellar ataxia External ophthalmoplegia Hypergonadotropic hypogonadism Diabetes mellitus Central nervous system degeneration Upper limb undergrowth Personality changes Obsessive-compulsive behavior Akinesia Hypokinesia Muscle fibrillation Bronchitis Restlessness Head tremor Slurred speech Chronic bronchitis Testicular atrophy Paranoia Mania Abnormal involuntary eye movements Neuronal loss in basal ganglia Suicidal ideation Frequent temper tantrums Rheumatoid arthritis Hyperkinesis Downbeat nystagmus Aggressive behavior Palatal myoclonus Anemia Hypertension Ventriculomegaly Depressivity Weight loss Arthritis Anxiety Irritability Schizophrenia Cough Abnormality of the cerebral white matter Infertility Abnormality of movement Falls Brain atrophy Type II diabetes mellitus Involuntary movements Ocular albinism Peripheral axonal neuropathy Hypopigmentation of the skin Cerebral visual impairment Toe syndactyly Small hand Tapered finger Epileptic encephalopathy Narrow forehead Happy demeanor Impaired social interactions Encephalopathy Poor eye contact Molar tooth sign on MRI Stereotypy Areflexia Spastic paraplegia Paraplegia Clinodactyly Syndactyly Generalized muscle weakness Joint laxity Reduced tendon reflexes Sensorimotor neuropathy Mask-like facies Frequent falls Absent Achilles reflex Orofacial dyskinesia Cerebellar vermis hypoplasia Vertical nystagmus Wide nasal bridge Abnormality of ocular smooth pursuit Small posterior fossa Enlarged interhemispheric fissure Abnormal facial shape Ptosis Low-set ears High palate Esotropia Optic disc pallor Unsteady gait EMG abnormality Hypertonia Intellectual disability, severe Hypoplasia of the corpus callosum Talipes equinovarus Strabismus Distal muscle weakness Abnormal lower motor neuron morphology Recurrent respiratory infections Degeneration of anterior horn cells Hearing impairment Sensorineural hearing impairment Cataract Cerebellar hypoplasia Pes planus Malabsorption Agenesis of corpus callosum Abnormality of the nervous system Inability to walk Spinocerebellar atrophy Decreased motor nerve conduction velocity Bulbar palsy Bulbous nose Scanning speech Tongue atrophy Anal atresia Decreased sensory nerve conduction velocity Decreased amplitude of sensory action potentials Respiratory tract infection Dorsal column degeneration Talipes Poor speech Hypermetropia Attention deficit hyperactivity disorder Coloboma Protruding ear Oral motor hypotonia


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