Generalized hypotonia, and Optic disc pallor

Diseases related with Generalized hypotonia and Optic disc pallor

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

Top 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

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY Is also known as autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency|scar18

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY

Other less relevant matches:

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 8; JBTS8

Early infantile epileptic encephalopathy-47 is a neurologic disorder characterized by onset of intractable seizures in the first days or weeks of life. EEG shows background slowing and multifocal epileptic spikes, and may show hypsarrhythmia. Most patients have developmental regression after seizure onset and show persistent intellectual disability and neurologic impairment, although the severity is variable. Treatment with phenytoin, a voltage-gated sodium channel blocker, may be beneficial (summary by Guella et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47

Multiple mitochondrial dysfunctions syndrome-6 is an autosomal recessive severe neurodegenerative disorder with onset in early childhood. Affected individuals may have initial normal development, but show neurologic regression in the first year of life. They have hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. Some patients may die in childhood. Laboratory evidence indicates that the disorder results from mitochondrial dysfunction (summary by Vogtle et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6

Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

Autosomal recessive axonal CMT2A2B is a neurologic disorder characterized by onset of peripheral neuropathy in the first years of life. Patients have difficulty walking due to distal muscle weakness; upper limbs may also be affected. Sensory impairment is more variable. Patients often have optic atrophy (summary by Polke et al., 2011).

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B; CMT2A2B

Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75 Is also known as spg75

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75

Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).

SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME Is also known as sino syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Optic disc pallor

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Optic atrophy Dysarthria Dysmetria Hyperreflexia Ventriculomegaly Seizures Developmental regression Limb ataxia Cognitive impairment Gait disturbance Failure to thrive Spasticity Difficulty walking Absent speech Gait ataxia Poor speech Encephalopathy Hypertonia Reduced visual acuity

Rare Symptoms - Less than 30% cases

Leukoencephalopathy Hyporeflexia Astigmatism Paraplegia Obesity Hypermetropia Microcephaly Spastic paraplegia Feeding difficulties Delayed gross motor development Abnormality of the cerebral white matter Delayed speech and language development Muscular hypotonia of the trunk Oculomotor apraxia Areflexia Inability to walk Peripheral neuropathy Epileptic encephalopathy Neurodegeneration Cerebral atrophy Hypoplasia of the corpus callosum Muscle weakness Dystonia Visual loss Poor head control Increased serum lactate Postnatal microcephaly Esotropia Abnormality of eye movement Abnormal facial shape Visual impairment Hearing impairment Muscular hypotonia Intellectual disability, moderate Abnormal pyramidal sign Abnormal cerebellum morphology Impaired vibratory sensation Titubation Babinski sign Cerebral visual impairment Unsteady gait Talipes Wrist drop Spinal deformities Decreased nerve conduction velocity Anteverted nares Respiratory insufficiency due to muscle weakness Increased body weight Foot dorsiflexor weakness Sensorimotor neuropathy Sensory impairment Distal sensory impairment Falls Peripheral axonal neuropathy Upslanted palpebral fissure Neonatal hypotonia Distal muscle weakness Facial palsy Proximal muscle weakness Kyphoscoliosis Pes cavus Protruding ear Prominent nasal bridge Kyphosis Talipes equinovarus Tapered finger Scoliosis Abnormality of the periventricular white matter Glaucoma Epicanthus Stridor Temporal optic disc pallor Abnormal CNS myelination Dilation of lateral ventricles Limb hypertonia Partial agenesis of the corpus callosum Progressive spastic paraplegia Plagiocephaly Delayed myelination Full cheeks Deeply set eye Polyhydramnios Prominent forehead Agenesis of corpus callosum Impaired distal vibration sensation Horizontal nystagmus Hyporeflexia of lower limbs Areflexia of lower limbs Spastic dysarthria Corpus callosum atrophy Distal lower limb amyotrophy Spastic paraparesis Paraparesis Leukodystrophy Clonus Spastic gait Strabismus Truncal ataxia Brisk reflexes Failure to thrive in infancy Neurological speech impairment Constipation Hypohidrosis Abnormality of extrapyramidal motor function Status epilepticus Hypsarrhythmia Clumsiness Focal-onset seizure Cerebral palsy Severe global developmental delay Rotary nystagmus Morphological abnormality of the pyramidal tract EEG abnormality Autism Functional motor deficit Arnold-Chiari type I malformation Limb dysmetria Jerky ocular pursuit movements Flexion contracture Hepatomegaly Undetectable electroretinogram Hyperventilation Occipital encephalocele Molar tooth sign on MRI Encephalocele Pigmentary retinopathy Abnormality of the eye Jaundice Abnormal autonomic nervous system physiology Chronic constipation External ophthalmoplegia Obsessive-compulsive behavior Spastic tetraparesis Exotropia Progressive neurologic deterioration Tetraparesis Apraxia Lactic acidosis Ophthalmoplegia Lethargy Irritability Acidosis Dyspnea Respiratory failure Visual field defect Multifocal epileptiform discharges Anemia Brain atrophy Abnormality of mitochondrial metabolism Incoordination Motor delay Spastic tetraplegia Myoclonus Tetraplegia Dysdiadochokinesis Gaze-evoked nystagmus Cerebellar vermis atrophy Progressive cerebellar ataxia Esophoria


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