Muscular hypotonia, and Optic atrophy

Diseases related with Muscular hypotonia and Optic atrophy

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

Top matches:

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

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

Medium match CAMOS SYNDROME

CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.

CAMOS SYNDROME Is also known as scar5|cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about CAMOS SYNDROME

Other less relevant matches:

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

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

Medium 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

Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.

SEVERE CANAVAN DISEASE Is also known as neonatal canavan disease|infantile canavan disease

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SEVERE CANAVAN DISEASE

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Ataxia Hearing impairment Hypoplasia of the corpus callosum Muscular hypotonia of the trunk

Rare Symptoms - Less than 30% cases

Abnormal cerebellum morphology Abnormal pyramidal sign Hyperreflexia Cerebral atrophy Nystagmus Hypertrophic cardiomyopathy Dysarthria Motor delay Retinal degeneration Cerebral visual impairment Visual impairment Optic disc pallor Cardiomyopathy Lethargy Coma Growth delay Renal insufficiency Dysphagia Generalized-onset seizure Epileptic encephalopathy Delayed myelination Rigidity Encephalopathy Visual loss Gastroesophageal reflux Caesarian section Abnormal myelination Progressive microcephaly Profound global developmental delay Breech presentation Weak cry Neurodevelopmental delay Opisthotonus Sleep disturbance Feeding difficulties in infancy Abnormality of the eye Apnea EEG abnormality Macrocephaly Abnormal electroretinogram Encephalocele Intellectual disability, mild Delayed ability to walk Occipital encephalocele Pulmonic stenosis Aciduria Tetraparesis Loss of speech Glutaric aciduria Hypoplasia of the brainstem Lissencephaly Polymicrogyria Type II lissencephaly Hypersarcosinemia Elevated serum creatine phosphokinase Absent speech Microphthalmia Myopathy Ventriculomegaly Talipes equinovarus Cataract Hypokinesia Cortical gyral simplification Generalized myoclonic seizures Clumsiness Hypertonia Hyperammonemia Progressive extrapyramidal movement disorder Aplasia/Hypoplasia of the cerebellum Nephrotic syndrome Abnormality of the skin Brain atrophy Poor speech Blindness Short stature Renal tubular dysfunction Hemiplegia/hemiparesis Pancreatitis Abnormal facial shape Choreoathetosis Chorea Sepsis Neutropenia Nausea and vomiting Thrombocytopenia Dystonia Respiratory distress Hepatomegaly Anemia Strabismus Epicanthus Skeletal muscle atrophy Progressive cerebellar ataxia Feeding difficulties Sensorineural hearing impairment Jerky ocular pursuit movements Limb dysmetria Titubation Morphological abnormality of the pyramidal tract Impaired vibratory sensation Cerebral palsy Limb ataxia Abnormality of extrapyramidal motor function Dysmetria Anteverted nares Intellectual disability, moderate Gait ataxia Myoclonus Cerebellar atrophy Visual field defect Obsessive-compulsive behavior Tapered finger Prominent nasal bridge Protruding ear Reduced visual acuity Upslanted palpebral fissure Abnormality of visual evoked potentials


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