Spasticity, and Dementia

Diseases related with Spasticity and Dementia

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


Top matches:

High match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Low match AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9


Related symptoms:

  • Spasticity
  • Dementia
  • Distal muscle weakness
  • Distal amyotrophy
  • Parkinsonism


SOURCES: OMIM MESH MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9

Low match PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK23


Parkinson disease-23 is a progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become severely disabled within a few decades (summary by Lesage et al., 2016).

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Tremor
  • Cerebral atrophy


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK23

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Other less relevant matches:

Low match HUNTINGTON DISEASE


Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.

HUNTINGTON DISEASE Is also known as huntington chorea

Related symptoms:

  • Spasticity
  • Behavioral abnormality
  • Dementia
  • Cerebral cortical atrophy
  • EEG abnormality


SOURCES: ORPHANET MENDELIAN

More info about HUNTINGTON DISEASE

Low match ADAN AMYLOIDOSIS


ADan amyloidosis is a rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves.

ADAN AMYLOIDOSIS Is also known as heredopathia ophthalmootoencephalica|dementia, familial danish|hooe|cerebellar ataxia, cataract, deafness, and dementia or psychosis|familial dementia, danish type|fdd|familial danish dementia

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Cataract
  • Spasticity
  • Tremor


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ADAN AMYLOIDOSIS

Low match ABRI AMYLOIDOSIS


ABri amyloidosis is a rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.

ABRI AMYLOIDOSIS Is also known as presenile dementia with spastic ataxia|fbd|cerebral amyloid angiopathy, british type|familial dementia, british type|dementia, familial british

Related symptoms:

  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Hypertonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ABRI AMYLOIDOSIS

Low match EARLY-ONSET LAFORA BODY DISEASE


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

Low match ALZHEIMER DISEASE; AD


Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions (Sennvik et al., 2000). Terry and Davies (1980) pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT).Haines (1991) reviewed the genetics of AD. Selkoe (1996) reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. Theuns and Van Broeckhoven (2000) reviewed the transcriptional regulation of the genes involved in Alzheimer disease. Genetic Heterogeneity of Alzheimer DiseaseAlzheimer disease is a genetically heterogeneous disorder. See also AD2 (OMIM ), associated with the APOE*4 allele (OMIM ) on chromosome 19; AD3 (OMIM ), caused by mutation in the presenilin-1 gene (PSEN1 ) on 14q; and AD4 (OMIM ), caused by mutation in the PSEN2 gene (OMIM ) on 1q31.There is evidence for additional AD loci on other chromosomes; see AD5 (OMIM ) on 12p11, AD6 (OMIM ) on 10q24, AD7 (OMIM ) on 10p13, AD8 (OMIM ) on 20p, AD9 (OMIM ), associated with variation in the ABCA7 gene (OMIM ) on 19p13, AD10 (OMIM ) on 7q36, AD11 (OMIM ) on 9q22, AD12 (OMIM ) on 8p12-q22, AD13 (OMIM ) on 1q21, AD14 (OMIM ) on 1q25, AD15 (OMIM ) on 3q22-q24, AD16 (OMIM ) on Xq21.3, AD17 (OMIM ) on 6p21.2, and AD18 (OMIM ), associated with variation in the ADAM10 gene (OMIM ) on 15q21.Evidence also suggests that mitochondrial DNA polymorphisms may be risk factors in Alzheimer disease (OMIM ).Finally, there have been associations between AD and various polymorphisms in other genes, including alpha-2-macroglobulin (A2M; {103950.0005}), low density lipoprotein-related protein-1 (LRP1 ), the transferrin gene (TF ), the hemochromatosis gene (HFE ), the NOS3 gene (OMIM ), the vascular endothelial growth factor gene (VEGF ), the ABCA2 gene (OMIM ), and the TNF gene (OMIM ) (see MOLECULAR GENETICS).

ALZHEIMER DISEASE; AD Is also known as presenile and senile dementia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Spasticity
  • Cognitive impairment
  • Edema


SOURCES: OMIM MENDELIAN

More info about ALZHEIMER DISEASE; AD

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73


Autosomal dominant spastic paraplegia type 73 is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73 Is also known as spg73

Related symptoms:

  • Seizures
  • Muscle weakness
  • Spasticity
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36


Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36 Is also known as spg36

Related symptoms:

  • Strabismus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36

Top 5 symptoms//phenotypes associated to Spasticity and Dementia

Symptoms // Phenotype % cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Mental deterioration Uncommon - Between 30% and 50% cases
Neurofibrillary tangles Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Spasticity and Dementia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Urinary incontinence Parkinsonism Cerebral amyloid angiopathy Tremor Neuronal loss in central nervous system Ataxia

Rare Symptoms - Less than 30% cases


Lower limb spasticity Spastic gait Myoclonus Encephalopathy Psychosis Behavioral abnormality Confusion Urinary urgency Progressive spastic paraplegia Senile plaques Paraplegia Spastic paraplegia Lewy bodies Babinski sign Hypertonia Distal muscle weakness Rigidity Cerebral cortical atrophy Neurodegeneration Proximal muscle weakness Alzheimer disease Impaired vibration sensation in the lower limbs EMG abnormality Difficulty walking Abnormality of the foot Impaired vibratory sensation Skeletal muscle atrophy Muscle weakness Decreased level of GABA in serum Long-tract signs Progressive pes cavus Distal lower limb amyotrophy Limb muscle weakness Impaired distal tactile sensation Demyelinating sensory neuropathy Demyelinating motor neuropathy Impaired distal proprioception Impaired temperature sensation Impaired distal vibration sensation Sensory neuropathy Lower limb muscle weakness Arthritis Distal lower limb muscle weakness Pes cavus Peripheral neuropathy Strabismus Abnormal lower-limb motor evoked potentials Memory impairment Abnormality of the cerebrospinal fluid Progressive spastic paraparesis Degeneration of the lateral corticospinal tracts Stroke-like episode Spastic tetraplegia Brain atrophy Limb dystonia Intention tremor Cataract Hearing impairment Abnormality of the voice Abnormality of movement Developmental regression EEG abnormality Resting tremor Peripheral demyelination Akinesia Abnormal autonomic nervous system physiology Abnormal pyramidal sign Cerebral atrophy Frontotemporal dementia Amyotrophic lateral sclerosis Distal amyotrophy Posterior polar cataract Progressive neurologic deterioration Stroke Spastic tetraparesis Aggressive behavior Edema Intellectual disability Lafora bodies Paranoia Spastic ataxia Mutism Hallucinations Truncal ataxia Frequent falls Generalized myoclonic seizures Progressive cerebellar ataxia Tetraplegia Falls Dysarthria Abnormality of the adrenal glands Apathy Abnormal brainstem MRI signal intensity



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