Dysarthria, and Spastic tetraplegia

Diseases related with Dysarthria and Spastic tetraplegia

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

Top matches:

Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET LAFORA BODY DISEASE

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3

Other less relevant matches:

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78 Is also known as spg78

Related symptoms:

  • Strabismus
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78

PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy (summary by Sferra et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY-SPASTIC ATAXIA-DISTAL SPINAL MUSCULAR ATROPHY SYNDROME

Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.

INFANTILE-ONSET ASCENDING HEREDITARY SPASTIC PARALYSIS Is also known as iahsp

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Spasticity
  • Motor delay
  • Hyperreflexia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about INFANTILE-ONSET ASCENDING HEREDITARY SPASTIC PARALYSIS

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

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

Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15 Is also known as coxpd15

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15

Gerstmann-Straussler-Scheinker syndrome (GSSS) is a particular and rare form of human transmissible spongiform encephalopathy (TSE) due to a defective gene encoding the prion protein (PRNP gene) and marked by particular multicentric amyloid plaques in the brain.

GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME Is also known as gerstmann-straussler-scheinker disease|prion dementia|subacute spongiform encephalopathy, gerstmann-straussler type|encephalopathy, subacute spongiform, gerstmann-straussler type|amyloidosis, cerebral, with spongiform encephalopathy|cerebellar ataxia, pro

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Spastic tetraplegia

Symptoms // Phenotype % cases
Tetraplegia Very Common - Between 80% and 100% cases
Spasticity Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Ataxia Difficulty walking Dystonia Microcephaly Nystagmus Abnormal pyramidal sign Poor speech Cerebellar atrophy Babinski sign Mental deterioration Generalized hypotonia Tremor Peripheral axonal neuropathy Paraparesis Spastic paraparesis Unsteady gait Delayed speech and language development Short stature Spastic paraplegia Optic atrophy Strabismus Dysphagia Intellectual disability Supranuclear gaze palsy Hypoplasia of the corpus callosum Paraplegia Cerebral cortical atrophy Hallucinations Dementia Mutism Progressive cerebellar ataxia Peripheral neuropathy Skeletal muscle atrophy Rigidity

Rare Symptoms - Less than 30% cases

Developmental regression Psychosis Progressive spastic paraplegia Abnormality of the periventricular white matter Urinary incontinence Scoliosis Encephalopathy Anarthria Motor delay Abnormality of the eye Gait disturbance Paralysis Abnormality of eye movement Inability to walk Falls Gait ataxia Confusion Myoclonus Absent speech Involuntary movements Abnormality of extrapyramidal motor function Dysmetria Behavioral abnormality Visual impairment Frequent falls Hearing impairment Spastic tetraparesis Hyporeflexia Pes cavus Depressivity Distal amyotrophy Neurodegeneration Parkinsonism Areflexia Bradykinesia Toe walking Spastic ataxia Rotary nystagmus Cerebral hypomyelination Impaired smooth pursuit Ventricular septal defect Reduced visual acuity Obesity Abnormality of the cerebral white matter Increased serum lactate Intention tremor Ragged-red muscle fibers Insomnia Motor deterioration Truncal ataxia Cerebellar vermis atrophy Opisthotonus Oral-pharyngeal dysphagia Incoordination Leukodystrophy Lower limb spasticity Lewy bodies Choreoathetosis Specific learning disability Polyneuropathy Attention deficit hyperactivity disorder Muscular hypotonia of the trunk Hyperactivity Fever CNS hypomyelination Aphasia Pituitary adenoma Apraxia Perseveration Coma Gliosis Brain atrophy Memory impairment Hip dysplasia Clumsiness Paresthesia Apathy Slurred speech Chronic diarrhea Limb ataxia Everted upper lip vermilion Hyperkinesis Muscle stiffness Dysesthesia Hypomimic face Neurofibrillary tangles Blindness Global brain atrophy Alzheimer disease Athetosis Emotional lability Increased CSF lactate Wolff-Parkinson-White syndrome Myopathy Personality changes Akinesia Diarrhea Visual loss Weight loss Anxiety Aggressive behavior Limb muscle weakness Lower limb muscle weakness Slow saccadic eye movements Acetabular dysplasia Progressive pes cavus Horizontal nystagmus Sensory axonal neuropathy Progressive gait ataxia Neurogenic bladder Progressive spastic quadriplegia Facial myokymia Progressive extrapyramidal movement disorder Spastic diplegia EMG: axonal abnormality Growth delay Focal-onset seizure Foot dorsiflexor weakness Severe muscular hypotonia Spinal muscular atrophy Progressive encephalopathy Conjugated hyperbilirubinemia Hyperbilirubinemia Progressive spastic paraparesis Tics Generalized myoclonic seizures Paranoia Lafora bodies Tetraparesis Obsessive-compulsive behavior Motor axonal neuropathy Oromandibular dystonia Exotropia Abnormal globus pallidus morphology Motor tics Abnormal corpus striatum morphology Abnormality of thalamus morphology Eye of the tiger anomaly of globus pallidus Abnormal caudate nucleus morphology Heterotopia Hypoparathyroidism Difficulty standing Excessive salivation Short philtrum Intellectual disability, severe Hypertonia Coarse facial features Pes planus Neonatal hypotonia Wide mouth Bulbous nose Talipes equinovarus Waddling gait Febrile seizures Narrow forehead Open mouth Protruding tongue Genu recurvatum Facial hypotonia Ventriculomegaly Wide nasal bridge EMG: chronic denervation signs Morphological abnormality of the pyramidal tract Iron accumulation in substantia nigra Muscle weakness Drooling Bulbar palsy Abnormal lower motor neuron morphology Achilles tendon contracture Loss of ability to walk High palate Impaired mastication Motor neuron atrophy Pseudobulbar behavioral symptoms Abnormality of the corticospinal tract Abnormal facial shape Muscular hypotonia Flexion contracture Cerebral amyloid angiopathy


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