Generalized hypotonia, and Optic atrophy

Diseases related with Generalized hypotonia and Optic atrophy

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

Top matches:

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE MICROCEPHALY-SEIZURES-CORTICAL BLINDNESS-DEVELOPMENTAL DELAY SYNDROME

Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.

OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME Is also known as bbsoas|bosch-boonstra-schaaf optic atrophy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 13; SCA13

Other less relevant matches:

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Feeding difficulties
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28

Lissencephaly-8 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (summary by Jerber et al., 2016).For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 8; LIS8

High match SARCOSINEMIA

Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.

SARCOSINEMIA Is also known as sard deficiency|sardhd|sarcosine dehydrogenase complex deficiency|sardh deficiency|hypersarcosinemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SARCOSINEMIA

Early infantile epileptic encephalopathy-16 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood (summary by Duru et al., 2010 and Milh et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Optic atrophy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16; EIEE16

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W Is also known as cdgiw|cdg iw

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W

High match STT3B-CDG

STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).

STT3B-CDG Is also known as cdg syndrome type ix|congenital disorder of glycosylation type ix|cdg1x|carbohydrate deficient glycoprotein syndrome type ix|cdg-ix|congenital disorder of glycosylation type 1x

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about STT3B-CDG

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Optic atrophy

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Muscular hypotonia of the trunk Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypoplasia of the corpus callosum Cerebral atrophy Cerebellar atrophy Abnormal pyramidal sign Feeding difficulties

Rare Symptoms - Less than 30% cases

Epileptic encephalopathy Hyperreflexia Myoclonus Abnormality of extrapyramidal motor function Hypertrophic cardiomyopathy Cardiomyopathy Delayed myelination Retinal degeneration Generalized myoclonic seizures Ataxia Spasticity Encephalopathy Muscular hypotonia Abnormal cerebellum morphology Hearing impairment Thrombocytopenia Cryptorchidism Abnormal glycosylation Visual impairment Optic disc pallor Intrauterine growth retardation Scrotal hypoplasia Micropenis Cerebral visual impairment Failure to thrive Respiratory distress Nystagmus Hypoplasia of the brainstem Lissencephaly Encephalocele Absent speech Polymicrogyria Elevated serum creatine phosphokinase Microphthalmia Myopathy Ventriculomegaly Talipes equinovarus Occipital encephalocele Delayed ability to walk Cutaneous photosensitivity Dystonia Status epilepticus Hemiparesis Focal-onset seizure Progressive neurologic deterioration Brain atrophy Developmental regression Postnatal microcephaly Visual loss Hypokinesia Severe muscular hypotonia Macular degeneration Hypersarcosinemia Glutaric aciduria Loss of speech Tetraparesis Aciduria Pulmonic stenosis Intellectual disability, mild Type II lissencephaly Abnormal myelination Cataract Neurodevelopmental delay Cortical gyral simplification Prominent nasal bridge Dysmetria Intellectual disability, moderate Gait ataxia Dysarthria Motor delay Visual field defect Obsessive-compulsive behavior Tapered finger Protruding ear Clumsiness Reduced visual acuity Upslanted palpebral fissure Anteverted nares Epicanthus Abnormal facial shape Strabismus Poor speech Blindness Short stature Progressive cerebellar ataxia Limb ataxia Abnormal electroretinogram Feeding difficulties in infancy Progressive microcephaly Generalized-onset seizure Rigidity Growth delay Caesarian section Profound global developmental delay Breech presentation Weak cry Opisthotonus Abnormality of the eye Cerebral palsy Apnea Hypertonia Skeletal muscle atrophy Sensorineural hearing impairment Jerky ocular pursuit movements Limb dysmetria Titubation Morphological abnormality of the pyramidal tract Impaired vibratory sensation Abnormality of the genital system


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