Optic atrophy, and Neurological speech impairment

Diseases related with Optic atrophy and Neurological speech impairment

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


Top matches:

Medium match EARLY-ONSET X-LINKED OPTIC ATROPHY


Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.

EARLY-ONSET X-LINKED OPTIC ATROPHY Is also known as optic atrophy, non-leber type, with early onset|optic atrophy type 2|opa2|non-leber type optic atrophy with early-onset|optic atrophy, x-linked

Related symptoms:

  • Intellectual disability
  • Peripheral neuropathy
  • Dysarthria
  • Optic atrophy
  • Tremor


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about EARLY-ONSET X-LINKED OPTIC ATROPHY

Medium match PROGRESSIVE MICROCEPHALY-SEIZURES-CORTICAL BLINDNESS-DEVELOPMENTAL DELAY SYNDROME


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 MEPAN SYNDROME


Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. Optic atrophy develops around the same time or slightly later. Severity is variable, and some patients lose independent ambulation. Brain imaging shows abnormalities in the basal ganglia. Cognition appears to be unaffected (summary by Heimer et al., 2016).

MEPAN SYNDROME Is also known as childhood-onset generalized dystonia-optic atrophy syndrome|dystonia 29|dyt29|autosomal recessive childhood-onset dystonia, dyt29 type|dystonia 29, childhood-onset|mitochondrial enoyl coa reductase protein-associated neurodegeneration syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEPAN SYNDROME

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Other less relevant matches:

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

Medium match AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME


AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME Is also known as spax4|autosomal recessive spastic ataxia type 4

Related symptoms:

  • Ataxia
  • Nystagmus
  • Delayed speech and language development
  • Motor delay
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME

Medium match SPINOCEREBELLAR ATAXIA 13; SCA13


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 13; SCA13

Medium match RIBOSE-5-P ISOMERASE DEFICIENCY


Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about RIBOSE-5-P ISOMERASE DEFICIENCY

Medium match ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION


ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION Is also known as neurodegeneration with brain iron accumulation type 1, atypical form|pkan, atypical form|nbia1, atypical form

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

Medium match AUTOSOMAL RECESSIVE ATAXIA, BEAUCE TYPE


Autosomal recessive ataxia, Beauce type is characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.

AUTOSOMAL RECESSIVE ATAXIA, BEAUCE TYPE Is also known as cerebellar ataxia, autosomal recessive, type 1|ataxia, recessive, of beauce|autosomal recessive cerebellar ataxia type 1|scar8|arca1

Related symptoms:

  • Ataxia
  • Nystagmus
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA, BEAUCE TYPE

Medium match LISSENCEPHALY 8; LIS8


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

Top 5 symptoms//phenotypes associated to Optic atrophy and Neurological speech impairment

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Optic atrophy and Neurological speech impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Nystagmus Motor delay Global developmental delay Microcephaly Limb ataxia Myoclonus Generalized hypotonia

Rare Symptoms - Less than 30% cases


Progressive cerebellar ataxia Dysphagia Dysmetria Abnormal pyramidal sign Peripheral neuropathy Gait ataxia Chorea Cerebellar atrophy Muscular hypotonia Spastic ataxia Tongue atrophy Delayed ability to walk Emotional lability Tremor Gait disturbance Babinski sign Impaired vibratory sensation Abnormality of extrapyramidal motor function Blindness Hypoplasia of the corpus callosum Visual impairment Clumsiness Reduced visual acuity Frequent falls Increased level of ribitol in CSF Impulsivity Psychosis Increased level of D-threitol in plasma Increased level of xylitol in CSF Decreased level of erythritol in CSF Parkinsonism Decreased level of erythritol in urine Retinopathy Irritability Rigidity Cognitive impairment Depressivity Increased level of ribose in urine Increased level of D-threitol in urine Increased level of D-threitol in CSF Limb muscle weakness Obsessive-compulsive behavior Ventriculomegaly Abnormal myelination Occipital encephalocele Hypoplasia of the brainstem Lissencephaly Encephalocele Generalized myoclonic seizures Polymicrogyria Muscular hypotonia of the trunk Elevated serum creatine phosphokinase Absent speech Microphthalmia Myopathy Talipes equinovarus Limb dystonia Cataract Tongue fasciculations Difficulty running Atrophy/Degeneration affecting the brainstem Fasciculations Increased level of xylitol in urine Pes cavus Skeletal muscle atrophy Violent behavior Inertia Oromandibular dystonia Upper motor neuron dysfunction Focal dystonia Increased level of ribitol in urine Intellectual disability, moderate Elevated circulating ribitol concentration Cerebral visual impairment Abnormality of the skin Brain atrophy Renal insufficiency Craniofacial dystonia Involuntary movements Dyskinesia Abnormality of eye movement Abnormality of the eye Difficulty walking Dystonia Poor speech Aplasia/Hypoplasia of the cerebellum Short stature Hyperactive patellar reflex Absent Achilles reflex Optic neuropathy Abnormality of mitochondrial metabolism Dysdiadochokinesis Progressive visual loss Pallor Abnormality of the nervous system Glaucoma Nephrotic syndrome Progressive extrapyramidal movement disorder Increased level of ribose in CSF Abnormal cerebellum morphology Leukoencephalopathy Sensorimotor neuropathy Polyneuropathy Cirrhosis Jerky ocular pursuit movements Limb dysmetria Titubation Morphological abnormality of the pyramidal tract Cerebral palsy Optic disc pallor Hearing impairment Delayed speech and language development Upper limb hypertonia Movement abnormality of the tongue Lower limb hypertonia Progressive gait ataxia Spastic paraparesis Paraparesis Neurodegeneration Falls Mental deterioration Hyporeflexia Type II lissencephaly



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