Dysarthria, and Tetraparesis

Diseases related with Dysarthria and Tetraparesis

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

Top matches:

Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012).For discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Dysphagia


SOURCES: OMIM MENDELIAN

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

Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.

PRIMARY LATERAL SCLEROSIS Is also known as pls, adult|adult-onset primary lateral sclerosis|adult-onset pls|pls|plsa

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PRIMARY LATERAL SCLEROSIS

Other less relevant matches:

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

ALZHEIMER DISEASE 3; AD Is also known as alzheimer disease, familial, 3|alzheimer disease 3, early-onset

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about ALZHEIMER DISEASE 3; AD

Autosomal dominant spastic paraplegia type 31 (SPG31) is a type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 31 Is also known as spg31

Related symptoms:

  • Spasticity
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 31

METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY Is also known as saposin b deficiency|metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: MESH OMIM MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY

Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM Is also known as issd|sialuria, finnish type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM

Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.

INFANTILE NEUROAXONAL DYSTROPHY Is also known as inad|neuroaxonal dystrophy, atypical|seitelberger disease|neurodegeneration with brain iron accumulation, pla2g6-related|inad1|phospholipase a2-associated neurodegeneration|plan

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE NEUROAXONAL DYSTROPHY

Top 5 symptoms//phenotypes associated to Dysarthria and Tetraparesis

Symptoms // Phenotype % cases
Spasticity Common - Between 50% and 80% cases
Spastic tetraparesis Common - Between 50% and 80% cases
Dysphagia Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Mental deterioration Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Babinski sign Hyperreflexia Seizures Generalized hypotonia Ataxia Rigidity Developmental regression Global developmental delay Cognitive impairment Nystagmus Intellectual disability Spastic paraparesis Paraparesis Spastic gait Peripheral neuropathy Muscle weakness Spastic paraplegia Paraplegia Neurodegeneration Gait disturbance Hypertonia Muscular hypotonia

Rare Symptoms - Less than 30% cases

Neuronal loss in central nervous system Progressive cerebellar ataxia Cerebral atrophy Hyporeflexia Cerebellar atrophy Pes cavus Difficulty walking Delayed speech and language development Abnormality of the periventricular white matter Gait ataxia Brisk reflexes Brain atrophy Lewy bodies Bradykinesia Toe walking Neurofibrillary tangles Lower limb hyperreflexia Skeletal muscle atrophy Leukoencephalopathy Ophthalmoplegia Exotropia Alzheimer disease Tetraplegia Bulbar signs Hemiparesis Depressivity Headache Generalized tonic-clonic seizures Parkinsonism Amyotrophic lateral sclerosis Chorea Peripheral axonal neuropathy Clumsiness Abnormality of eye movement Motor deterioration Anxiety Anemia Failure to thrive Peripheral demyelination Aspartylglucosaminuria Oligosacchariduria Vacuolated lymphocytes Visceromegaly Thickened calvaria Athetosis Leukodystrophy Severe global developmental delay Inability to walk CNS demyelination Coarse facial features Abnormality of metabolism/homeostasis Abnormality of the eye Intellectual disability, severe Decreased nerve conduction velocity Abnormality of the skeletal system Growth delay Loss of speech Spastic hemiparesis Hypoplasia of the corpus callosum Degeneration of the lateral corticospinal tracts Encephalopathy Hyperactivity Talipes calcaneovalgus Short attention span Impaired smooth pursuit Global brain atrophy Emotional lability Impulsivity Dysdiadochokinesis Cachexia Intention tremor Gliosis Falls Unsteady gait Dysmetria Muscular hypotonia of the trunk Optic atrophy Respiratory failure Visual impairment Feeding difficulties Strabismus Stridor Failure to thrive in infancy External ophthalmoplegia Progressive neurologic deterioration Optic disc pallor Increased serum lactate Lactic acidosis Lethargy Irritability Acidosis Urinary incontinence Dyspnea Hyperreflexia in upper limbs Polyneuropathy Oromandibular dystonia Hemiplegia Loss of consciousness Abnormality of the cerebral white matter Cerebral cortical atrophy Myoclonus Dementia Episodic quadriplegia Abnormal caudate nucleus morphology Eye of the tiger anomaly of globus pallidus Abnormality of thalamus morphology Abnormal corpus striatum morphology Motor tics Abnormal globus pallidus morphology Tics Abnormal autonomic nervous system physiology Motor axonal neuropathy Respiratory insufficiency Obsessive-compulsive behavior Spastic tetraplegia Absent speech Distal amyotrophy Abnormal lower motor neuron morphology Confusion Muscle stiffness Areflexia Behavioral abnormality Spastic dysarthria Abnormal nerve conduction velocity Memory impairment Abnormality of extrapyramidal motor function Abnormality of movement Agnosia Proximal lower limb amyotrophy Abnormal upper motor neuron morphology Hand muscle weakness Proximal muscle weakness in lower limbs Impaired proprioception Difficulty running Ankle clonus Urinary urgency Small hand Distal sensory impairment Lower limb muscle weakness Optic ataxia Limb apraxia Dyscalculia Apraxia Anarthria Dysgraphia Primitive reflex Shuffling gait Migraine Frontotemporal dementia Delusions Generalized-onset seizure Status epilepticus Dysphasia Personality changes Mutism Choreoathetosis Psychosis Aceruloplasminemia


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