Dysarthria, and Bradykinesia

Diseases related with Dysarthria and Bradykinesia

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


Top matches:

High match AUTOSOMAL DOMINANT STRIATAL NEURODEGENERATION


Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.

AUTOSOMAL DOMINANT STRIATAL NEURODEGENERATION Is also known as adsd

Related symptoms:

  • Dysarthria
  • Tremor
  • Gait disturbance
  • Dysphagia
  • Rigidity


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT STRIATAL NEURODEGENERATION

High match PARKINSON-DEMENTIA SYNDROME


Related symptoms:

  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Dementia
  • Kyphoscoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PARKINSON-DEMENTIA SYNDROME

High match SPINOCEREBELLAR ATAXIA TYPE 20


Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation.

SPINOCEREBELLAR ATAXIA TYPE 20 Is also known as sca20

Related symptoms:

  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Cerebellar atrophy
  • Gait ataxia


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 20

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Other less relevant matches:

High match EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME


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.

EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME Is also known as basal ganglion disorder with mental retardation|bgmr|waisman syndrome|parkinsonism, early-onset, with mental retardation|laxova-opitz syndrome|wsn

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME

High match ATP13A2-RELATED JUVENILE NEURONAL CEROID LIPOFUSCINOSIS


Autosomal recessive spastic paraplegia-78 is an adult-onset neurodegenerative disorder characterized predominantly by spasticity and muscle weakness of the lower limbs, resulting in gait difficulties and loss of ambulation in some patients. Affected individuals also have cerebellar signs, such as dysarthria, oculomotor disturbances, and limb and gait ataxia; brain imaging shows cerebellar atrophy. Some patients may have mild cognitive impairment or frank dementia. The phenotype is highly variable (summary by Estrada-Cuzcano et al., 2017).Biallelic mutation in the ATP13A2 gene also causes Kufor-Rakeb syndrome (KRS ), a neurodegenerative disorder with overlapping features. Patients with KRS have earlier onset and prominent parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by Estrada-Cuzcano et al., 2017).

ATP13A2-RELATED JUVENILE NEURONAL CEROID LIPOFUSCINOSIS Is also known as juvenile parkinsonism-neuronal ceroid lipofuscinosis|cln12 disease

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATP13A2-RELATED JUVENILE NEURONAL CEROID LIPOFUSCINOSIS

High match PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A


Parkinson disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by Edvardson et al., 2012 and Koroglu et al., 2013).Parkinson disease-19B is an autosomal recessive neurodegenerative disorder with onset of parkinsonism between the third and fifth decades. It is slowly progressive, shows features similar to classic late-onset Parkinson disease (PD), and has a beneficial response to dopaminergic therapy (Olgiati et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM ).

PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A Is also known as park19, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A

High match DYSTONIA 16


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 Is also known as dyt16|early-onset dystonia parkinsonism

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Pain
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DYSTONIA 16

High match HUNTINGTON DISEASE-LIKE 2


Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.

HUNTINGTON DISEASE-LIKE 2 Is also known as hdl2

Related symptoms:

  • Seizures
  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HUNTINGTON DISEASE-LIKE 2

High match COASY PROTEIN-ASSOCIATED NEURODEGENERATION


COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.

COASY PROTEIN-ASSOCIATED NEURODEGENERATION Is also known as copan|neurodegeneration with brain iron accumulation due to coasy mutation|nbia6

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about COASY PROTEIN-ASSOCIATED NEURODEGENERATION

High match PERRY SYNDROME


Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.

PERRY SYNDROME Is also known as parkinsonism with alveolar hypoventilation and mental depression

Related symptoms:

  • Dysarthria
  • Tremor
  • Respiratory insufficiency
  • Behavioral abnormality
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PERRY SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Bradykinesia

Symptoms // Phenotype % cases
Parkinsonism Very Common - Between 80% and 100% cases
Rigidity Very Common - Between 80% and 100% cases
Tremor Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Dystonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dementia Cognitive impairment Depressivity Postural instability Abnormal pyramidal sign Gait disturbance Resting tremor Hallucinations Abnormality of eye movement Mental deterioration Dyskinesia Lewy bodies Ataxia Behavioral abnormality Seizures Spasticity Intellectual disability Abnormality of movement

Rare Symptoms - Less than 30% cases


Global developmental delay Abnormal caudate nucleus morphology Delayed speech and language development Strabismus Spastic tetraplegia Postural tremor Abnormality of extrapyramidal motor function Personality changes Tetraplegia Shuffling gait Abnormal corpus striatum morphology Paraplegia Spastic paraplegia Laryngeal dystonia Cerebral calcification Apathy Inappropriate behavior Dysphagia Involuntary movements Slurred speech Weight loss Falls Dysphonia Neurodegeneration Morphological abnormality of the pyramidal tract Akinesia Cerebellar atrophy Pes cavus Gait ataxia Cerebral cortical atrophy Irritability Abnormality of the cerebrum Memory impairment Peripheral neuropathy Delusions Action tremor Generalized dystonia Orofacial dyskinesia Lower limb pain Functional motor deficit Caudate atrophy Chorea Limb pain Retrocollis Acanthocytosis Primitive reflex Anxiety Facial grimacing Toe walking Skeletal muscle atrophy Amyotrophic lateral sclerosis Respiratory failure Sleep disturbance Gliosis Hypotension Neuronal loss in central nervous system Mask-like facies Hypoventilation Respiratory insufficiency Insomnia Frontotemporal dementia Gait imbalance Respiratory arrest Central hypoventilation Weak voice Vertical supranuclear gaze palsy Abnormality of metabolism/homeostasis Eye of the tiger anomaly of globus pallidus Areflexia Paraparesis Hyporeflexia Difficulty walking Developmental regression Peripheral axonal neuropathy Distal amyotrophy Tetraparesis Spastic paraparesis Abnormality of thalamus morphology Obsessive-compulsive behavior Language impairment Motor axonal neuropathy Tics Oromandibular dystonia Abnormal globus pallidus morphology Motor tics Limb dystonia Supranuclear gaze palsy Ischemic stroke Intention tremor Megalencephaly Choreoathetosis Poor speech Neurological speech impairment Frontal bossing Macrocephaly Isometric tremor Tremor by anatomical site Hypermetric saccades Upper limb postural tremor Downbeat nystagmus Kinetic tremor Gaze-evoked nystagmus Vertigo Nystagmus Senile plaques Neurofibrillary tangles Alzheimer disease Ophthalmoparesis Kyphoscoliosis Symmetric lesions of the basal ganglia Degeneration of the striatum Abnormality of the basal ganglia Hyperactive deep tendon reflexes Hypokinesia Lower limb hyperreflexia Dysdiadochokinesis Hyperkinesis Cogwheel rigidity Muscle weakness Torticollis Intellectual disability, moderate Unsteady gait Stroke Motor delay Pain Anarthria Hypometric saccades Visual hallucinations Hypomimic face Global brain atrophy Psychosis Generalized-onset seizure Brain atrophy Inability to walk Encephalopathy Fatigue Upgaze palsy Parkinsonism with favorable response to dopaminergic medication Myokymia Neurogenic bladder Diffuse cerebral atrophy Abnormal cerebellum morphology Polyneuropathy Distal sensory impairment Aggressive behavior Myoclonus Babinski sign Cerebral atrophy Hypoplasia of the corpus callosum Short stepped shuffling gait



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