Optic atrophy, and Abnormal pyramidal sign

Diseases related with Optic atrophy and Abnormal pyramidal sign

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

Top matches:

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

Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 57 Is also known as spastic paraplegia due to partial tfg deficiency|spg57

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Optic atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 57

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

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 13; SCA13

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

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

Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 74 Is also known as spg74

Related symptoms:

  • Spasticity
  • Visual impairment
  • Peripheral neuropathy
  • Hyperreflexia
  • Optic atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 74

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO WWOX DEFICIENCY Is also known as scar12|autosomal recessive spinocerebellar ataxia type 12|spinocerebellar ataxia with mental retardation and epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO WWOX DEFICIENCY

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

MT-ATP6-related mitochondrial spastic paraplegia is a rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.

MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA Is also known as maternally-inherited spastic paraplegia|maternally-inherited spg

Related symptoms:

  • Hyperreflexia
  • Optic atrophy
  • Cardiomyopathy
  • Babinski sign
  • Diabetes mellitus


SOURCES: ORPHANET MENDELIAN

More info about MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA

Top 5 symptoms//phenotypes associated to Optic atrophy and Abnormal pyramidal sign

Symptoms // Phenotype % cases
Hyperreflexia Common - Between 50% and 80% cases
Babinski sign Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Optic atrophy and Abnormal pyramidal sign. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Nystagmus Motor delay Myoclonus Limb ataxia Seizures Global developmental delay Generalized hypotonia Cerebellar atrophy Peripheral neuropathy

Rare Symptoms - Less than 30% cases

Cerebral atrophy Gait ataxia Peripheral axonal neuropathy Muscular hypotonia Abnormal cerebellum morphology Abnormality of extrapyramidal motor function Microcephaly Clumsiness Distal lower limb muscle weakness Frequent falls Progressive cerebellar ataxia Progressive spastic paraplegia Hyporeflexia Lower limb spasticity Difficulty walking Emotional lability Delayed speech and language development Sensory impairment Tremor Reduced visual acuity Hyperactive patellar reflex Visual loss Spastic paraplegia Paraplegia Cardiomyopathy Status epilepticus Hypoplasia of the corpus callosum Visual field defect Impaired vibration sensation in the lower limbs Distal sensory impairment Distal amyotrophy Supraventricular arrhythmia Delayed myelination Lower limb pain Pes cavus Areflexia Visual impairment EMG: neuropathic changes Hypersarcosinemia Glutaric aciduria Loss of speech Tetraparesis Aciduria Pulmonic stenosis Hypertrophic cardiomyopathy Brain atrophy Intellectual disability, mild Increased serum lactate Diabetes mellitus Dystonia Progressive neurologic deterioration Urinary bladder sphincter dysfunction Cutaneous photosensitivity Gaze-evoked nystagmus Generalized-onset seizure Retinal degeneration Generalized tonic-clonic seizures Growth delay Hemiparesis Epileptic encephalopathy Distal peripheral sensory neuropathy Decreased activity of mitochondrial complex I Focal-onset seizure Encephalopathy Muscular hypotonia of the trunk Decreased activity of mitochondrial complex II Developmental regression Decreased Achilles reflex Generalized myoclonic seizures Cerebral white matter atrophy Severe muscular hypotonia Macular degeneration Postnatal microcephaly Depressivity Violent behavior Motor polyneuropathy Lower limb hypertonia Spastic ataxia Progressive gait ataxia Delayed ability to walk Spastic paraparesis Paraparesis Neurodegeneration Falls Mental deterioration Abnormality of the Achilles tendon Difficulty standing Abnormal myelination Abnormality of peripheral nerve conduction Upper limb hypertonia Distal lower limb amyotrophy Difficulty climbing stairs Sensorimotor neuropathy Inability to walk Absent Achilles reflex Optic neuropathy Abnormality of mitochondrial metabolism Dysdiadochokinesis Progressive visual loss Pallor Abnormality of the nervous system Glaucoma Movement abnormality of the tongue Hearing impairment Inertia Irritability Tongue atrophy Oromandibular dystonia Upper motor neuron dysfunction Focal dystonia Limb dystonia Obsessive-compulsive behavior Impulsivity Psychosis Chorea Parkinsonism Neurological speech impairment Retinopathy Rigidity Intellectual disability, moderate Blindness Dysphagia Gait disturbance Cognitive impairment Jerky ocular pursuit movements Limb dysmetria Titubation Morphological abnormality of the pyramidal tract Impaired vibratory sensation Cerebral palsy Optic disc pallor Dysmetria Leg muscle stiffness


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