Ataxia, and Neonatal hypotonia

Diseases related with Ataxia and Neonatal hypotonia

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


Top matches:

Medium match X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA


X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.

X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA Is also known as scax5|x-linked spinocerebellar ataxia type 5

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA

Medium match PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY


Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.

PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY Is also known as lactic acidemia with pyruvate dehydrogenase phosphatase deficiency|pdh phosphatase deficiency

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY

Medium match PYRUVATE DEHYDROGENASE E2 DEFICIENCY


Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.

PYRUVATE DEHYDROGENASE E2 DEFICIENCY Is also known as dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency|lactic acidemia due to defect of e2 lipoyl transacetylase of the pyruvate dehydrogenase complex|pyruvate dehydrogenase complex component e2 deficiency|dihydrolipoyll

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E2 DEFICIENCY

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Other less relevant matches:

Medium match X-LINKED PROGRESSIVE CEREBELLAR ATAXIA


SCAX1 is an X-linked recessive neurologic disorder characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia (summary by Bertini et al., 2000). Genetic Heterogeneity of X-linked Spinocerebellar AtaxiaX-linked recessive spinocerebellar ataxia (SCAX) is a clinically and genetically heterogeneous disorder. See also SCAX2 (OMIM ), SCAX3 (OMIM ), SCAX4 (OMIM ), and SCAX5 (OMIM ).

X-LINKED PROGRESSIVE CEREBELLAR ATAXIA Is also known as olivopontocerebellar atrophy, x-linked|opca, x-linked|opcax

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED PROGRESSIVE CEREBELLAR ATAXIA

Medium match DYSEQUILIBRIUM SYNDROME


Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

Medium 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

Medium match SPINOCEREBELLAR ATAXIA TYPE 7


Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy|sca7|cerebellar syndrome-pigmentary maculopathy syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 7

Medium match PEROXISOME BIOGENESIS DISORDER 5B; PBD5B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5B; PBD5B

Medium match MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY


Mitochondrial DNA depletion syndrome-8A is a severe autosomal recessive disorder characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration. Renal tubular involvement may also occur (Bourdon et al., 2007).Mitochondrial DNA depletion syndrome-8B is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype (Shaibani et al., 2009).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY Is also known as mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive|mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY

Medium match PEROXISOME BIOGENESIS DISORDER 8B; PBD8B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 8B; PBD8B

Top 5 symptoms//phenotypes associated to Ataxia and Neonatal hypotonia

Symptoms // Phenotype % cases
Nystagmus Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Dysarthria Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Neonatal hypotonia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Dysmetria

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Babinski sign Gait ataxia Cerebellar atrophy Dysphagia Unsteady gait Hyperreflexia Spasticity Cognitive impairment Hearing impairment Strabismus Lactic acidosis Progressive cerebellar ataxia Peripheral neuropathy Acidosis Areflexia Frequent falls Intention tremor Failure to thrive Sensorineural hearing impairment Spastic dysarthria Dysdiadochokinesis Tremor Seizures

Rare Symptoms - Less than 30% cases


Polyneuropathy Decreased liver function Cerebellar vermis atrophy Slow saccadic eye movements Retinal dystrophy Falls Spastic paraparesis Distal lower limb amyotrophy Very long chain fatty acid accumulation Leukodystrophy Visual impairment Cataract Gait disturbance Intellectual disability, moderate Ophthalmoplegia Gaze-evoked nystagmus Optic atrophy Hyporeflexia Reduced visual acuity Feeding difficulties Muscle weakness Abnormality of the cerebral white matter Abnormal cerebellum morphology Broad-based gait Lower limb spasticity Corpus callosum atrophy Oculomotor apraxia Cerebellar hypoplasia Clumsiness Truncal ataxia Action tremor Saccadic smooth pursuit Nonprogressive cerebellar ataxia Muscular hypotonia Decreased activity of the pyruvate dehydrogenase complex Microcephaly Poor speech Apraxia Ptosis Abnormal pyramidal sign Pes cavus Gastrointestinal dysmotility Cerebral atrophy Congestive heart failure Nausea and vomiting Proximal tubulopathy Blindness Weight loss Vomiting Pneumonia Ragged-red muscle fibers Difficulty running Temporal optic disc pallor Impaired distal vibration sensation Hyporeflexia of lower limbs Constipation Titubation Areflexia of lower limbs Bronchiolitis Cachexia Visual loss Progressive neurologic deterioration Orofacial dyskinesia Rod-cone dystrophy Progressive muscle weakness Increased serum lactate Generalized muscle weakness Abnormal fundus morphology Aminoaciduria Hemeralopia Restless legs Ophthalmoparesis Photophobia External ophthalmoplegia Cone/cone-rod dystrophy Macular degeneration Respiratory insufficiency Joint laxity Psychosis Sensory impairment Nausea Mental deterioration Elevated levels of phytanic acid Arachnodactyly Impaired vibratory sensation Jerky head movements Progressive gait ataxia EMG: neuropathic changes Axonal loss Lower limb hyperreflexia Incoordination Foot dorsiflexor weakness Sensorimotor neuropathy Limb ataxia Lower limb muscle weakness Limb muscle weakness Scoliosis Paroxysmal dystonia Difficulty standing Generalized dystonia Delayed gross motor development Hyperammonemia Drooling Choreoathetosis Intellectual disability, mild Dystonia Muscular hypotonia of the trunk Edema Respiratory distress Generalized neonatal hypotonia Cerebellar vermis hypoplasia Spinocerebellar tract degeneration Decreased/absent ankle reflexes Paraparesis Cortical gyral simplification Clonus Spastic gait Neurodegeneration Astigmatism Paraplegia Hypermetropia Spastic paraplegia Difficulty walking Glaucoma Hypertonia Ventriculomegaly Toe walking Short stature Hypoplasia of the brainstem Abnormality of vision Cerebral palsy Pachygyria Abnormality of movement Abnormality of the eye Pes planus Absent speech Abnormality of metabolism/homeostasis Intellectual disability, severe Skeletal muscle atrophy Delayed speech and language development Sensory neuropathy



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