Muscular hypotonia, and Autism

Diseases related with Muscular hypotonia and Autism

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

Top matches:

Autosomal dominant remitting MLC2B is characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white matter abnormalities on brain MRI that improve with age. As children, some patients have mild residual hypotonia or clumsiness, but otherwise have no residual motor abnormalities. About 40% of patients have mental retardation (summary by van der Knaap et al., 2010 and Lopez-Hernandez et al., 2011).Homozygous or compound heterozygous mutations in the HEPACAM gene can cause a more severe and progressive disorder associated with ataxia, spasticity, and mental retardation (MLC2A ).For a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION; MLC2B

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 39; MRD39

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

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57; MRT57

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30

L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.

L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY Is also known as arginine:glycine amidinotransferase deficiency|gatm deficiency|agat deficiency|creatine deficiency syndrome due to agat deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59; EIEE59

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

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Autistic behavior Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases

Aggressive behavior Absent speech Motor delay Ataxia

Rare Symptoms - Less than 30% cases

Apraxia Cognitive impairment Inability to walk Abnormal facial shape Growth delay Hyperactivity Focal-onset seizure Atrial septal defect Mutism Behavioral abnormality Wide mouth Feeding difficulties Macrocephaly Failure to thrive Pes cavus Gowers sign Language impairment Failure to thrive in infancy Infantile muscular hypotonia Aciduria Proximal muscle weakness Periorbital fullness Mood swings Elevated serum creatine phosphokinase Speech apraxia Myopathy Dermal translucency Intellectual disability, severe High palate Muscle weakness Decreased muscle mass Long fingers Poor eye contact Esophagitis Downslanted palpebral fissures Frontal bossing Infantile spasms Self-injurious behavior Focal impaired awareness seizure Drooling Hypsarrhythmia Immunodeficiency Progressive proximal muscle weakness Developmental regression Sleep disturbance Postnatal growth retardation Ventriculomegaly Scoliosis Abnormality of creatine metabolism Pointed chin Organic aciduria Epileptic encephalopathy Muscular hypotonia of the trunk Intellectual disability, mild Brachycephaly Short stature Motor tics Tics Impulsivity Attention deficit hyperactivity disorder Anxiety Neonatal hypotonia Obesity Heterotaxy Diffuse swelling of cerebral white matter Diffuse white matter abnormalities Megalencephaly Leukoencephalopathy Clumsiness Abnormality of the cerebral white matter Spasticity Abnormal heart morphology Nystagmus Ptosis Hypertonia Hypertelorism Hearing impairment Delayed ability to walk Febrile seizures Generalized myoclonic seizures Polymicrogyria Cerebral cortical atrophy Hyperreflexia Strabismus Microcephaly Pontocerebellar atrophy Poor coordination Incoordination Oculomotor apraxia Esotropia Cerebellar hypoplasia Tremor Broad eyebrow


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