Dysarthria, and Absent speech

Diseases related with Dysarthria and Absent speech

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

Top matches:

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24; ALS24

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

Other less relevant matches:

A rare, genetic, neuronal ceroid lipofuscinosis disorder characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe, progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 Is also known as progressive myoclonus epilepsy type 3|cln14|progressive myoclonic epilepsy due to kctd7 deficiency|epm3|pme type 3|cln14 disease|ceroid lipofuscinosis, neuronal, 14

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3

Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.

BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION Is also known as senda|beta-propeller protein-associated neurodegeneration|static encephalopathy of childhood with neurodegeneration in adulthood|bpan|neurodegeneration with brain iron accumulation type 5|nbia5|static encephalopathy of childhood with neurdegeneration in a

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B Is also known as ar-spg9b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.

HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM Is also known as leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum|habc|h-abc

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM

Top 5 symptoms//phenotypes associated to Dysarthria and Absent speech

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Spasticity Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Absent speech. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Cerebellar atrophy

Common Symptoms - More than 50% cases

Tremor

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases

Babinski sign Short stature Ataxia Dysmetria Dystonia Spastic paraplegia Nystagmus Poor speech Cognitive impairment Broad-based gait Motor delay Gait disturbance Hypoplasia of the corpus callosum Optic atrophy Tetraplegia Cerebral atrophy Abnormal facial shape Paraplegia Toe walking Dysphagia Pes planus

Rare Symptoms - Less than 30% cases

Skeletal muscle atrophy Cataract Muscular hypotonia Spastic tetraplegia Gait ataxia Encephalopathy Abnormality of the periventricular white matter Rigidity Mental deterioration Truncal ataxia Abnormality of movement Narrow forehead Febrile seizures Dysdiadochokinesis Unsteady gait Abnormality of extrapyramidal motor function Difficulty walking Paraparesis Spastic paraparesis Ventriculomegaly Neurodegeneration Intellectual disability, severe Generalized myoclonic seizures Polyneuropathy Abnormality of eye movement Neonatal hypotonia Developmental regression Esotropia Choreoathetosis Loss of speech Corpus callosum atrophy Wide mouth Flexion contracture High palate Acetabular dysplasia Cerebellar vermis atrophy Wide nasal bridge Talipes equinovarus Hypertonia Motor deterioration Coarse facial features Excessive salivation Short philtrum Open mouth Bulbous nose Facial hypotonia Inability to walk Rotary nystagmus Genu recurvatum Growth delay Waddling gait Protruding tongue Everted upper lip vermilion Involuntary movements Muscle weakness Hearing impairment Hyperreflexia in upper limbs Leukodystrophy Impaired vibration sensation at ankles Lower limb spasticity Impaired continence Frequent falls Visual impairment Pseudobulbar paralysis Fever Hyperactivity Muscular hypotonia of the trunk Attention deficit hyperactivity disorder Falls Specific learning disability Pollakisuria Primitive reflex Cerebral cortical atrophy Postural tremor Kyphoscoliosis Abnormality of the cerebral white matter Limb muscle weakness Opisthotonus Urinary incontinence Foot dorsiflexor weakness Oral-pharyngeal dysphagia Urinary retention CNS hypomyelination Impaired vibratory sensation Lower limb hyperreflexia Mild microcephaly Absent Achilles reflex Nonprogressive cerebellar ataxia Spastic gait Generalized tonic-clonic seizures Gaze-evoked nystagmus Functional motor deficit Dementia Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Intracellular accumulation of autofluorescent lipopigment storage material Cutaneous photosensitivity Status epilepticus Retinopathy Myoclonus Visual loss Scoliosis Facial palsy Abnormality of ocular abduction Inferior vermis hypoplasia Retrocerebellar cyst Limb dysmetria Sleep disturbance Gaze-evoked horizontal nystagmus Difficulty standing Hypometric saccades Horizontal nystagmus Intellectual disability, profound Neurological speech impairment Abnormal pyramidal sign Ptosis Abnormal lower motor neuron morphology Bulbar signs Amyotrophic lateral sclerosis Tetraparesis Respiratory insufficiency Aggressive behavior Parkinsonism Cortical gyral simplification Abnormal CNS myelination Hypoplasia of the brainstem Abnormality of vision Cerebral palsy Pachygyria Intention tremor Progressive cerebellar ataxia Arachnodactyly Abnormality of the eye Intellectual disability, moderate Cerebellar hypoplasia Abnormality of metabolism/homeostasis Strabismus Nasogastric tube feeding in infancy Progressive spasticity Gliosis Drooling Severe muscular hypotonia Postnatal microcephaly Hypotelorism Low-set ears Failure to thrive Iron accumulation in substantia nigra Iron accumulation in brain Frontal release signs Progressive encephalopathy Abnormal autonomic nervous system physiology Stereotypy Bradykinesia Neuronal loss in central nervous system Cerebral hypomyelination


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