Spasticity, and Optic disc pallor

Diseases related with Spasticity and Optic disc pallor

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


Top matches:

Low match OPTIC ATROPHY 1; OPA1


Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density (Votruba et al., 1998).Some patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see {125250}. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).Yu-Wai-Man et al. (2009) provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON ), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders. Genetic Heterogeneity of Optic AtrophyOptic atrophy-2 (OPA2 ) maps to chromosome Xp11.4-p11.21. OPA3 (OMIM ) is caused by mutation in the OPA3 gene (OMIM ) on chromosome 19q13. OPA4 (OMIM ) maps to chromosome 18q12.2-q12.3. OPA5 (OMIM ) is caused by mutation in the DNM1L gene (OMIM ) on chromosome 12p11. OPA6 (OMIM ) maps to chromosome 8q21-q22. OPA7 (OMIM ) is caused by mutation in the TMEM126A gene (OMIM ) on chromosome 11q14. OPA8 (OMIM ) maps to chromosome 16q21-q22. OPA9 (OMIM ) is caused by mutation in the ACO2 gene (OMIM ) on chromosome 22q13; OPA10 (OMIM ) is caused by mutation in the RTN4IP1 gene (OMIM ) on chromosome 6q21; and OPA11 (OMIM ) is caused by mutation in the YME1L1 gene (OMIM ) on chromosome 10p12.

OPTIC ATROPHY 1; OPA1 Is also known as kjer-type optic atrophy|optic atrophy, kjer type|oak|optic atrophy, juvenile

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY 1; OPA1

Low match SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME


Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.

SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME Is also known as spoan|spg68|autosomal recessive spastic paraplegia type 68

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME

Low match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6


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

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Other less relevant matches:

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8


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

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75


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

Low match HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 6


Hereditary motor and sensory neuropathy type VI is an autosomal dominant neurologic disorder characterized by peripheral neuropathy and optic atrophy (summary by Voo et al., 2003). Genetic Heterogeneity of Hereditary Motor and Sensory Neuropathy Type VISee also HMSN6B (OMIM ), caused by mutation in the SLC25A46 gene (OMIM ) on chromosome 5q22.For a general phenotypic description and a discussion of genetic heterogeneity of CMT, see CMT1B (OMIM ).

HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 6 Is also known as peripheral neuropathy and optic atrophy|charcot-marie-tooth disease, type 6a|cmt6|hmsn via|cmt6a|charcot-marie-tooth disease, type 6|hmsn6|neuropathy, hereditary motor and sensory, type vi|charcot-marie-tooth disease type 6

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 6

Low match SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME


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

Low match MFF-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT


Encephalopathy due to defective mitochondrial and peroxisomal fission-2 is an autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy (summary by Koch et al., 2016).For a discussion of genetic heterogeneity of EMPF, see EMPF1 (OMIM ).

MFF-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT Is also known as leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome|leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MFF-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT

Low match SPINOCEREBELLAR ATAXIA 1; SCA1


The autosomal dominant cerebellar degenerative disorders are generally referred to as 'spinocerebellar ataxias,' (SCAs) even though 'spinocerebellar' is a hybrid term, referring to both clinical signs and neuroanatomical regions (Margolis, 2003). Neuropathologists have defined SCAs as cerebellar ataxias with variable involvement of the brainstem and spinal cord, and the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord (Schols et al., 2004; Taroni and DiDonato, 2004).Historically, Harding (1982) proposed a clinical classification for autosomal dominant cerebellar ataxias (ADCAs). ADCA I was characterized by cerebellar ataxia in combination with various associated neurologic features, such as ophthalmoplegia, pyramidal and extrapyramidal signs, peripheral neuropathy, and dementia, among others. ADCA II was characterized by the cerebellar ataxia, associated neurologic features, and the additional findings of macular and retinal degeneration. ADCA III was a pure form of late-onset cerebellar ataxia without additional features. SCA1, SCA2 (OMIM ), and SCA3, or Machado-Joseph disease (OMIM ), are considered to be forms of ADCA I. These 3 disorders are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively. SCA7 (OMIM ), caused by a CAG repeat expansion in the ATXN7 gene (OMIM ) on chromosome 3p13-p12, is a form of ADCA II. SCA5 (OMIM ), SCA31 (OMIM ), SCA6 (OMIM ), and SCA11 (OMIM ) are associated with phenotypes most suggestive of ADCA III. However, Schelhaas et al. (2000) noted that there is significant phenotypic overlap between different forms of SCA as well as significant phenotypic variability within each subtype.Classic reviews of olivopontocerebellar atrophies and of inherited ataxias in general include those of Konigsmark and Weiner (1970), who identified 5 types of olivopontocerebellar atrophy, Berciano (1982), Harding (1993), Schelhaas et al. (2000), and Margolis (2003).

SPINOCEREBELLAR ATAXIA 1; SCA1 Is also known as opca i|opca1|opca4|olivopontocerebellar atrophy i|spinocerebellar atrophy i|opca iv|menzel type opca|olivopontocerebellar atrophy iv|cerebelloparenchymal disorder i|schut-haymaker type opca|cpd1

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 1; SCA1

Low match CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION


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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

Top 5 symptoms//phenotypes associated to Spasticity and Optic disc pallor

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Optic atrophy Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Cognitive impairment Paraplegia Spastic paraplegia Dysarthria Neurodegeneration Reduced visual acuity Visual loss Intellectual disability Hyporeflexia Cerebellar atrophy Gait disturbance Inability to walk Hypertonia Dysmetria Seizures External ophthalmoplegia Skeletal muscle atrophy Areflexia Encephalopathy Ophthalmoplegia Dystonia Dysphagia Distal amyotrophy

Rare Symptoms - Less than 30% cases


Microcephaly Failure to thrive Dysmetric saccades Hyporeflexia of lower limbs Distal lower limb amyotrophy Absent speech Hypoplasia of the corpus callosum Developmental regression Babinski sign Decreased motor nerve conduction velocity Impaired vibratory sensation Clonus Spastic gait Abnormal cerebellum morphology Astigmatism Hypermetropia Ventriculomegaly Increased serum lactate Brisk reflexes Respiratory failure Cerebral atrophy Delayed gross motor development Muscle weakness Leukoencephalopathy Epileptic encephalopathy Progressive spastic paraplegia Hearing impairment Sensorimotor neuropathy Scoliosis Progressive visual loss Abnormality of extrapyramidal motor function Abnormality of color vision Scotoma Central scotoma Proximal muscle weakness Glaucoma Blindness Visual impairment Leber optic atrophy Abnormality of mitochondrial metabolism Temporal optic disc pallor Sensorineural hearing impairment Sensory neuropathy Difficulty walking Pes cavus Peripheral axonal neuropathy Prominent forehead Distal sensory impairment of all modalities Abnormal CNS myelination Slow decrease in visual acuity Esophoria Generalized dystonia Abnormality of the tongue Aspiration pneumonia Axonal degeneration/regeneration Eye of the tiger anomaly of globus pallidus Hypsarrhythmia Opisthotonus Dilation of lateral ventricles Abnormal posturing Mild neurosensory hearing impairment Polyhydramnios Abnormal facial shape Limb hypertonia Delayed speech and language development Partial agenesis of the corpus callosum Plagiocephaly Obesity Esotropia Delayed myelination Full cheeks Agenesis of corpus callosum Muscular hypotonia of the trunk Deeply set eye Severe muscular hypotonia Chorea Ophthalmoparesis Spinocerebellar atrophy Attention deficit hyperactivity disorder Weight loss Slow saccadic eye movements Rod-cone dystrophy Dorsal column degeneration Decreased amplitude of sensory action potentials Impaired horizontal smooth pursuit Cough Spinocerebellar tract degeneration Olivopontocerebellar atrophy Dilated fourth ventricle Scanning speech Tongue atrophy Supranuclear ophthalmoplegia Decreased sensory nerve conduction velocity Urinary bladder sphincter dysfunction Pigmentary retinopathy Muscular hypotonia Mask-like facies Dementia Retinal degeneration Progressive cerebellar ataxia Neuronal loss in central nervous system Limb ataxia Fasciculations Toe walking Bulbar palsy Truncal ataxia Increased susceptibility to fractures Incoordination Muscle stiffness Dysdiadochokinesis Gaze-evoked nystagmus Frequent falls Vocal cord paresis Failure to thrive in infancy Positive Romberg sign Motor axonal neuropathy Kyphosis Hyperhidrosis Sensory axonal neuropathy Multiple joint contractures Decreased number of peripheral myelinated nerve fibers Impaired vibration sensation in the lower limbs Exaggerated startle response Flexion contracture Hyperreflexia proximally Feeding difficulties Poor speech Tetraplegia Spastic tetraplegia Postnatal microcephaly Motor delay Pain Anemia Visual field defect Strabismus Myopathy Abnormality of the eye Pallor Muscle cramps Horizontal nystagmus Optic neuropathy Abnormal amplitude of pattern reversal visual evoked potentials Severe vision loss Progressive external ophthalmoplegia Dyschromatopsia Red-green dyschromatopsia Tritanomaly Centrocecal scotoma Poor head control Dyspnea Motor polyneuropathy Distal sensory impairment Areflexia of lower limbs Titubation Impaired distal vibration sensation Mental deterioration Distal muscle weakness Limb muscle weakness Polyneuropathy Corpus callosum atrophy Sensory impairment Lumbar hyperlordosis Anosmia Tinnitus Steppage gait Abnormality of visual evoked potentials Spastic dysarthria Spastic paraparesis Acidosis Spastic tetraparesis Irritability Lethargy Lactic acidosis Tetraparesis Progressive neurologic deterioration Exotropia Stridor Paraparesis Abnormality of the periventricular white matter Neonatal hypotonia Intellectual disability, moderate Abnormal pyramidal sign Abnormality of the cerebral white matter Leukodystrophy Iron accumulation in brain



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