Ataxia, and Muscular hypotonia of the trunk

Diseases related with Ataxia and Muscular hypotonia of the trunk

In the following list you will find some of the most common rare diseases related to Ataxia and Muscular hypotonia of the trunk that can help you solving undiagnosed cases.


Top matches:

Medium 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

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46

Medium match CLN13 DISEASE


Neuronal ceroid lipofuscinosis-13 is an autosomal recessive neurodegenerative disorder characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neurons show abnormal accumulation of autofluorescent material (summary by Smith et al., 2013).Adult-onset neuronal ceroid lipofuscinosis is sometimes referred to as Kufs disease.For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see CLN1 (OMIM ).

CLN13 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 13, kufs type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLN13 DISEASE

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Other less relevant matches:

Medium match BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES


Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.

BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES Is also known as bfnis|benign neonatal-infantile epilepsy

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES

Medium match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7; NBIA7


Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7; NBIA7

Medium match CONGENITAL CEREBELLAR ATAXIA DUE TO RNU12 MUTATION


Related symptoms:

  • Nystagmus
  • Dysarthria
  • Cerebellar atrophy
  • Cerebral cortical atrophy
  • Gait ataxia


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL CEREBELLAR ATAXIA DUE TO RNU12 MUTATION

Medium match PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY


Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.

PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY Is also known as lactic acidemia with pyruvate dehydrogenase phosphatase deficiency|pdh phosphatase deficiency

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY

Medium match OXOGLUTARIC ACIDURIA


Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.

OXOGLUTARIC ACIDURIA Is also known as 2-ketoglutarate dehydrogenase deficiency|alpha-kgd deficiency|oxoglutaric aciduria|alpha-ketoglutarate dehydrogenase deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OXOGLUTARIC ACIDURIA

Medium match PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME


PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME Is also known as cerebrorenal syndrome, perez type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Strabismus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME

Medium match LISSENCEPHALY 3; LIS3


Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LISSENCEPHALY 3; LIS3

Top 5 symptoms//phenotypes associated to Ataxia and Muscular hypotonia of the trunk

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Muscular hypotonia of the trunk. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dystonia Cerebellar atrophy Dysarthria Cognitive impairment Gait ataxia Cerebral atrophy Spasticity Hypoplasia of the corpus callosum Absent speech Intellectual disability, severe

Rare Symptoms - Less than 30% cases


Intellectual disability, mild Frequent falls Dysmetria Tetraplegia Spastic tetraplegia Muscular hypotonia Focal-onset seizure Dyskinesia Acidosis Myoclonus Hyperreflexia Lactic acidosis Difficulty walking Encephalopathy Dementia Strabismus Motor delay Hypsarrhythmia Abnormality of extrapyramidal motor function Increased serum lactate Epileptic encephalopathy Hypertonia Dysphagia Apraxia Choreoathetosis Oculomotor apraxia Amblyopia Truncal ataxia Cerebellar dysplasia Abnormality of the eye Nephropathy Falls Stage 5 chronic kidney disease Abnormality of eye movement Developmental regression Hyperkalemia Renal insufficiency Hypertension Ptosis Muscle weakness Abnormality of Krebs cycle metabolism Abnormal urine alpha-ketoglutarate concentration Nephritis Feeding difficulties Limb hypertonia Intellectual disability, profound Congenital microcephaly Cortical dysplasia Abnormality of neuronal migration Esodeviation Hypoplasia of the brainstem Lissencephaly Cerebral visual impairment Heterotopia Pachygyria Hemiparesis Cerebellar vermis hypoplasia Polymicrogyria Loss of speech Abnormal pyramidal sign Agenesis of corpus callosum Cerebellar hypoplasia Abnormal salivary gland morphology Dilatation Blindness Ventriculomegaly Hemianopia Microcephaly Camptocormia Hyperechogenic kidneys Tubulointerstitial nephritis Congenital lactic acidosis Delayed gross motor development Metabolic acidosis Neuronal loss in central nervous system Tetraparesis Intellectual disability, moderate Abnormality of the nervous system EEG abnormality Frontal release signs Primitive reflex Diffuse cerebral atrophy Emotional lability Postural tremor Personality changes Mental deterioration Myokymia Rigidity Babinski sign Depressivity Tremor Absence seizures Unsteady gait Restlessness Athetosis Inability to walk Severe global developmental delay Spastic tetraparesis Abnormal myelination Abnormality of movement Poor fine motor coordination Hypoglycemia Hydrocephalus Skeletal muscle atrophy Short stature Decreased activity of the pyruvate dehydrogenase complex Neonatal hypotonia Edema Respiratory distress Neurodevelopmental abnormality Infantile axial hypotonia Abnormal corpus callosum morphology Delayed speech and language development Cerebellar vermis atrophy Decreased liver function Broad-based gait Intention tremor Febrile seizures Cerebral cortical atrophy Loss of ability to walk Delayed ability to walk Progressive cerebellar ataxia Pes cavus Agyria



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