Generalized hypotonia, and Anxiety

Diseases related with Generalized hypotonia and Anxiety

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

Top matches:

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

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypical, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options.

AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4 Is also known as chromosome xp22 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4

Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012).For discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2

Other less relevant matches:

Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.

FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA Is also known as fdfm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA

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

Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.

RAPID-ONSET DYSTONIA-PARKINSONISM Is also known as dyt12|dystonia-parkinsonism, rapid-onset|rdp|dystonia 12

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Motor delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPID-ONSET DYSTONIA-PARKINSONISM

MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47|mrx47

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 30; MRX30

Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME

MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 Is also known as mhp1|fhm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Hyperactivity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Dystonia Motor delay Aggressive behavior Abnormality of movement Psychosis Delayed speech and language development Tremor Nystagmus Autism Choreoathetosis Delayed gross motor development Dysarthria Intellectual disability, moderate Apraxia Behavioral abnormality Myoclonus Obsessive-compulsive behavior Depressivity Chorea Drooling

Rare Symptoms - Less than 30% cases

Short nose Migraine Generalized-onset seizure Gait ataxia Cerebellar atrophy Status epilepticus Hemiparesis Hyperreflexia Hypertonia Hallucinations Fever Thin upper lip vermilion Downslanted palpebral fissures Resting tremor Strabismus Agitation Hypertelorism Open mouth Abnormality of eye movement Parkinsonism Hemiplegia Generalized tonic-clonic seizures Involuntary movements Abnormality of the eye Personality disorder Torsion dystonia Torticollis Autistic behavior Attention deficit hyperactivity disorder Absent speech Retrocollis Muscular hypotonia Cognitive impairment Headache Bradykinesia Macrotia Progressive neurologic deterioration Migraine with aura Upslanted palpebral fissure Auditory hallucinations Intellectual disability, severe Anteverted nares High palate Microcephaly Psychotic episodes Oculogyric crisis Mutism Craniofacial dystonia Abnormal posturing Weak voice Flat face Focal dystonia Hypomimic face Broad-based gait Limb dystonia Emotional lability Dysphonia Dyscalculia Drowsiness Visual hallucinations Broad nasal tip Speech apraxia Hearing impairment Pain Edema Large forehead Confusion Paresthesia Delayed ability to walk Gliosis Language impairment Relative macrocephaly Stereotypy Delayed myelination Poor speech Schizophrenia Broad forehead Irritability Retinal degeneration Coma Retrognathia Prominent forehead Obesity Macrocephaly Failure to thrive Abnormal cerebellum morphology Long ear Short attention span Restlessness Dysphasia Neuronal loss in central nervous system Absence seizures Progressive cerebellar ataxia Mental deterioration Limb hypertonia Dyskinesia Dilated cardiomyopathy Muscular hypotonia of the trunk Difficulty walking Congestive heart failure Cardiomyopathy Episodic quadriplegia Loss of consciousness Abnormal autonomic nervous system physiology Tetraparesis Tetraplegia Rigidity Orofacial dyskinesia Motor tics Tics Impulsivity Atrial septal defect Spinal myoclonus Limb myoclonus Panic attack Cortical myoclonus Agoraphobia Axial dystonia Writer's cramp Laryngeal dystonia Dementia Myokymia Paroxysmal dyskinesia Postural instability Depressed nasal bridge Inability to walk Unsteady gait Intellectual disability, mild Dysphagia Obsessive-compulsive trait Hyperparathyroidism Unilateral renal agenesis Nephrocalcinosis Focal-onset seizure Triangular face Highly arched eyebrow Thin vermilion border Smooth philtrum Paroxysmal dystonia Facial myokymia Cataplexy Disinhibition Self-injurious behavior Hyperkinesis Oculomotor apraxia Clumsiness Aciduria Generalized myoclonic seizures Sleep disturbance Abnormality of the nervous system EEG abnormality Hyporeflexia Abnormality of metabolism/homeostasis Transient unilateral blurring of vision


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