Cognitive impairment, and Tremor

Diseases related with Cognitive impairment and Tremor

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


Top matches:

Medium match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7


A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7 Is also known as pme type 7|progressive myoclonus epilepsy type 7|epm7|myoclonus epilepsy and ataxia due to potassium channel mutation|meak|progressive myoclonic epilepsy due to kv3.1 deficiency

Related symptoms:

  • Seizures
  • Ataxia
  • Tremor
  • Cerebellar atrophy
  • Myoclonus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low match HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS


Huntington disease-like syndrome due to C9ORF72 expansions is a rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems.

HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS Is also known as c9orf72-related huntington disease phenocopy|c9orf72-related huntington disease-like syndrome|huntington disease phenocopy due to c9orf72 expansions

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Tremor
  • Dystonia
  • Depressivity


SOURCES: ORPHANET MENDELIAN

More info about HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match PARKINSON DISEASE 17; PARK17


Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Wider et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.

Related symptoms:

  • Intellectual disability
  • Tremor
  • Dystonia
  • Hyperhidrosis
  • Rigidity


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 17; PARK17

Low match MYOCLONUS-DYSTONIA SYNDROME


Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.

MYOCLONUS-DYSTONIA SYNDROME Is also known as myoclonic dystonia|hereditary essential myoclonus|dystonia, alcohol-responsive|myoclonus-dystonia syndrome|myoclonus, hereditary essential|alcohol-responsive dystonia

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Cognitive impairment
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about MYOCLONUS-DYSTONIA SYNDROME

Low match EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2


Familial adult myoclonic epilepsy-2 is an autosomal dominant neurologic disorder characterized by rhythmic myoclonic jerks of cortical origin. Some affected individuals have generalized tonic-clonic seizures, and rare patients show cognitive decline (summary by De Fusco et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (OMIM ).

EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2 Is also known as adcme|bafme2|cortical myoclonic tremor with epilepsy, familial, 2|benign adult familial myoclonic epilepsy 2|cortical myoclonus and epilepsy, autosomal dominant|fcmte2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Cognitive impairment
  • Tremor


SOURCES: MESH OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2

Low match SPINOCEREBELLAR ATAXIA 15; SCA15


SCA15 is an autosomal dominant, adult-onset, very slowly progressive form of cerebellar ataxia. Most patients also have disabling action and postural tremor, and some have pyramidal tract affection, dorsal column involvement, and gaze palsy. Brain imaging shows cerebellar atrophy mainly affecting the vermis (summary by Synofzik et al., 2011).Heterozygous mutation in the ITPR1 gene can also cause SCA29 (OMIM ), which is distinguished by onset in infancy of delayed motor development followed by nonprogressive ataxia and mild cognitive impairment.Autosomal dominant 'pure' cerebellar ataxia, classified as ADCA type III by {3,4:Harding (1983, 1993)}, is a genetically heterogeneous disorder (see, e.g., {117210}).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 15; SCA15 Is also known as sca16, formerly|spinocerebellar ataxia 16, formerly

Related symptoms:

  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Motor delay
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 15; SCA15

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

Low match AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72


Autosomal spastic paraplegia type 72 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.

AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72 Is also known as spg72

Related symptoms:

  • Pain
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Babinski sign


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72

Low match SPINOCEREBELLAR ATAXIA TYPE 12


Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.

SPINOCEREBELLAR ATAXIA TYPE 12 Is also known as sca12

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Hyperreflexia
  • Gait disturbance
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 12

Top 5 symptoms//phenotypes associated to Cognitive impairment and Tremor

Symptoms // Phenotype % cases
Myoclonus Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Parkinsonism Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cognitive impairment and Tremor. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Rigidity Dystonia Dementia Postural tremor Abnormal pyramidal sign Intellectual disability Mental deterioration Cerebellar atrophy Memory impairment

Rare Symptoms - Less than 30% cases


Behavioral abnormality Lewy bodies Spasticity Intention tremor Involuntary movements Akinesia Cerebral atrophy Resting tremor Action tremor Chorea Anxiety Abnormality of movement Depressivity Psychosis Bradykinesia Abnormal autonomic nervous system physiology Neuronal loss in central nervous system Neurodegeneration Cerebral cortical atrophy Scanning speech Limb tremor Gaze-evoked nystagmus Impaired smooth pursuit Gaze-evoked horizontal nystagmus Dysmetric saccades Limb dystonia Head tremor Neurofibrillary tangles Urinary bladder sphincter dysfunction Pain Impaired vibration sensation at ankles Limb dysmetria Poor fine motor coordination Hypokinesia Sensorimotor neuropathy Abnormal cerebellum morphology Unsteady gait Gait disturbance Abnormality of higher mental function Upper limb spasticity Babinski sign Toe walking Impaired vibratory sensation Muscle stiffness Spastic gait Paraplegia Spastic paraplegia Difficulty walking Pes cavus Truncal ataxia Giant somatosensory evoked potentials Limb ataxia Muscular hypotonia Axial dystonia Writer's cramp Torsion dystonia Laryngeal dystonia Obsessive-compulsive behavior Torticollis Hyperactivity Generalized hypotonia Retrocollis Schizophrenia Postural instability Dyskinesia Hyperhidrosis Inappropriate behavior Upper motor neuron dysfunction Abnormal facial shape Global developmental delay Personality disorder Agoraphobia Progressive cerebellar ataxia EEG with photoparoxysmal response Gait ataxia Dysarthria Motor delay Nystagmus Enhancement of the C-reflex Jerk-locked premyoclonus spikes EEG with irregular generalized spike and wave complexes Blepharospasm Cortical myoclonus Hand tremor Focal impaired awareness seizure Focal-onset seizure Generalized tonic-clonic seizures Intellectual disability, moderate Spinal myoclonus Limb myoclonus Panic attack Tremor by anatomical site



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Stroke, related diseases and genetic alterations Brachydactyly and Thin skin, related diseases and genetic alterations Skeletal muscle atrophy and Autism, related diseases and genetic alterations High palate and Nephrotic syndrome, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more