Muscular hypotonia, and Apraxia

Diseases related with Muscular hypotonia and Apraxia

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

Top matches:

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

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

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 28; JBTS28

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

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

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

Rare Symptoms - Less than 30% cases

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


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