Generalized hypotonia, and Apraxia

Diseases related with Generalized hypotonia and Apraxia

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 27; JBTS27

Joubert syndrome-25 is an autosomal recessive ciliopathy characterized by delayed psychomotor development and oculomotor apraxia associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. The clinical manifestations appear to be confined to the neurologic system, as patients tend not to have additional renal, liver, or limb involvement (summary by Srour et al., 2015)For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Cerebellar hypoplasia
  • Apraxia


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 25; JBTS25

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 28; JBTS28

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 31; JBTS31

Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.

SPINOCEREBELLAR ATAXIA TYPE 29 Is also known as cnpca|aplasia of cerebellar vermis|congenital nonprogressive spinocerebellar ataxia|cerebellar vermis aplasia|sca29|cerebellar ataxia, congenital nonprogressive, autosomal dominant|acv

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 29

Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017).

PILAROWSKI-BJORNSSON SYNDROME; PILBOS Is also known as developmental delay and speech apraxia with or without seizures

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PILAROWSKI-BJORNSSON SYNDROME; PILBOS

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.

SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as ssadh deficiency|4-hydroxybutyric aciduria|gaba metabolic defect|gamma-hydroxybutyric aciduria

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME Is also known as poretti-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME

Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.

PYRUVATE DEHYDROGENASE E2 DEFICIENCY Is also known as dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency|lactic acidemia due to defect of e2 lipoyl transacetylase of the pyruvate dehydrogenase complex|pyruvate dehydrogenase complex component e2 deficiency|dihydrolipoyll

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E2 DEFICIENCY

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Apraxia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Ataxia Very Common - Between 80% and 100% cases
Oculomotor apraxia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Apraxia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of eye movement Motor delay Strabismus Molar tooth sign on MRI Delayed speech and language development Seizures Cognitive impairment Cerebellar hypoplasia Autism

Rare Symptoms - Less than 30% cases

Choreoathetosis Paroxysmal dystonia Delayed gross motor development Poor speech Muscular hypotonia Intellectual disability, mild Hyperreflexia Dystonia Retinal dystrophy Autistic behavior Tremor Truncal ataxia Generalized dystonia Hyperkinesis Absence seizures Hallucinations Clumsiness Psychosis Status epilepticus Aciduria Generalized myoclonic seizures Generalized tonic-clonic seizures Sleep disturbance Obsessive-compulsive behavior Abnormality of the eye Intellectual disability, moderate Aggressive behavior Abnormality of the nervous system Anxiety EEG abnormality Decreased activity of the pyruvate dehydrogenase complex Hyperactivity Self-injurious behavior Cataplexy Disinhibition Myoclonus Acidosis Ptosis Microcephaly Lactic acidosis Retinal thinning Cerebellar cyst Cerebellar dysplasia Dilated fourth ventricle Abnormally large globe Abnormality of the periventricular white matter Neonatal hypotonia Amblyopia Heterotopia Cerebellar vermis hypoplasia High myopia Abnormality of the cerebral white matter Drooling Elevated serum creatine phosphokinase Myopia Muscle weakness Hyperammonemia Retinal atrophy Frontal bossing Hyporeflexia Gait ataxia Cerebral palsy Horizontal nystagmus Limb ataxia Broad-based gait Intention tremor Focal-onset seizure Abnormal cerebellum morphology Unsteady gait Dysmetria Cerebellar atrophy Focal impaired awareness seizure Dysarthria Pontocerebellar atrophy Poor coordination Incoordination Esotropia Absent speech Hypoplasia of the corpus callosum Ventriculomegaly Retinopathy Abnormal electroretinogram Dysdiadochokinesis Gaze-evoked nystagmus Abnormality of metabolism/homeostasis Macrocephaly Behavioral abnormality Broad eyebrow Dermal translucency Periorbital fullness Speech apraxia Pointed chin Postnatal growth retardation Developmental regression Immunodeficiency Downslanted palpebral fissures Growth delay Cerebellar vermis atrophy Visual fixation instability Delayed social development Delayed fine motor development Truncal titubation Diffuse cerebellar atrophy Abnormal saccadic eye movements Vertical nystagmus Nonprogressive cerebellar ataxia Titubation Agenesis of cerebellar vermis Jerky head movements


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