Cognitive impairment, and Gait disturbance

Diseases related with Cognitive impairment and Gait disturbance

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


Top matches:

Low match ABETA AMYLOIDOSIS, IOWA TYPE


Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.

ABETA AMYLOIDOSIS, IOWA TYPE Is also known as abetad23n amyloidosis|hchwa, iowa type|hereditary cerebral hemorrhage with amyloidosis, iowa type

Related symptoms:

  • Gait disturbance
  • Dysphagia
  • Behavioral abnormality
  • Dementia
  • Myoclonus


SOURCES: ORPHANET MENDELIAN

More info about ABETA AMYLOIDOSIS, IOWA TYPE

Low match KURU, SUSCEPTIBILITY TO


Kuru, a fatal neurodegenerative condition, is a human prion disease that primarily affected the Fore linguistic group of the Eastern Highlands of Papua New Guinea. Kuru was transmitted by the practice of consuming dead relatives as a mark of respect and mourning ('transumption'). The incidence has fallen dramatically since the cessation of cannibalism in the 1950s (summary by Wadsworth et al., 2008).

Related symptoms:

  • Ataxia
  • Mental deterioration
  • Abnormality of eye movement
  • Unsteady gait
  • Neurodegeneration


SOURCES: OMIM MENDELIAN

More info about KURU, SUSCEPTIBILITY TO

Low 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

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Other less relevant matches:

Low 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 19; ALS19


Related symptoms:

  • Cognitive impairment
  • Respiratory insufficiency due to muscle weakness
  • Amyotrophic lateral sclerosis
  • Loss of ability to walk


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 19; ALS19

Low match CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES


Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.

CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES Is also known as cnm4|centronuclear myopathy type 4

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Cognitive impairment
  • Fatigue
  • Myopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES

Low 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 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hyperreflexia
  • Intellectual disability, severe


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4

Low match SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33


Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Talipes equinovarus
  • Babinski sign


SOURCES: MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33

Top 5 symptoms//phenotypes associated to Cognitive impairment and Gait disturbance

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Dementia Uncommon - Between 30% and 50% cases
Myoclonus Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Hyperreflexia Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Dystonia Global developmental delay Generalized hypotonia Amyotrophic lateral sclerosis Tremor Mental deterioration Skeletal muscle atrophy Talipes equinovarus Frontotemporal dementia Fasciculations Inability to walk Neuronal loss in central nervous system Increased serum lactate Abnormality of extrapyramidal motor function Athetosis Restlessness Spasticity Spastic paraplegia Babinski sign Ankle clonus Pallor Paraplegia Respiratory failure Lower limb muscle weakness Lower limb spasticity Muscular hypotonia of the trunk Spastic gait Clonus Hyporeflexia Severe global developmental delay Intellectual disability Absent speech Hypertonia Behavioral abnormality Stroke Memory impairment Cerebral hemorrhage Abnormality of the cerebral vasculature Abnormality of eye movement Unsteady gait Neurodegeneration Cerebellar atrophy Abnormality of movement Respiratory insufficiency due to muscle weakness Intellectual disability, severe Loss of ability to walk Muscle weakness Fatigue Myopathy Neonatal hypotonia Myalgia Falls Centrally nucleated skeletal muscle fibers Dysphagia Abnormal facial shape Proximal amyotrophy



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