Ataxia, and Flexion contracture

Diseases related with Ataxia and Flexion contracture

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


Top matches:

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42

Low match MYASTHENIC SYNDROME, CONGENITAL, 18; CMS18


Congenital myasthenic syndrome-18 is an autosomal dominant presynaptic neuromuscular disorder characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia (summary by Shen et al., 2014).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 18; CMS18 Is also known as myasthenic syndrome, congenital, 18, with intellectual disability and ataxia

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Ptosis
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 18; CMS18

Low match AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY


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

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Other less relevant matches:

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D


PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D Is also known as pcca|cerebellocerebral atrophy, progressive

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D

Low match SPINOCEREBELLAR ATAXIA TYPE 14


Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.

SPINOCEREBELLAR ATAXIA TYPE 14 Is also known as sca14

Related symptoms:

  • Generalized hypotonia
  • Cognitive impairment
  • Dysarthria
  • Tremor
  • Myoclonus


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 14

Low match INHERITED CONGENITAL SPASTIC TETRAPLEGIA


Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.

INHERITED CONGENITAL SPASTIC TETRAPLEGIA Is also known as spastic quadriplegic cerebral palsy|inherited congenital spastic quadriplegia

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about INHERITED CONGENITAL SPASTIC TETRAPLEGIA

Low match LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME


This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.

LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME Is also known as mitochondrial aspartyl-trna synthetase deficiency|leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome|lbsl

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME

Low match MECKEL SYNDROME 13; MKS13


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Micrognathia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME 13; MKS13

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 MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; MRD9


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; MRD9

Top 5 symptoms//phenotypes associated to Ataxia and Flexion contracture

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Gait ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Flexion contracture. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria Generalized hypotonia Hyperreflexia Babinski sign Cognitive impairment Cerebellar vermis atrophy Spasticity Tremor Peripheral neuropathy Difficulty walking Peripheral axonal neuropathy Cerebellar atrophy Microcephaly Poor speech

Rare Symptoms - Less than 30% cases


Truncal ataxia Gaze-evoked nystagmus Oculomotor apraxia Progressive cerebellar ataxia Dystonia Cerebral atrophy Spastic tetraplegia Optic atrophy Apraxia Hyporeflexia of lower limbs Scoliosis Intellectual disability, severe Spastic paraplegia Paraplegia Delayed speech and language development Motor delay Skeletal muscle atrophy Limb ataxia Hyporeflexia Optic disc pallor Unsteady gait Hypertonia EEG abnormality Muscle weakness Abnormality of eye movement Multiple joint contractures Athetosis Esotropia Cerebral visual impairment Retinopathy Inability to walk Polydactyly Cerebellar hypoplasia Micrognathia Episodic ataxia Paraparesis Sensory ataxia Encephalocele Spastic paraparesis Slurred speech Leukoencephalopathy Clumsiness Optic neuropathy Progressive neurologic deterioration Severe global developmental delay Occipital encephalocele Polycystic kidney dysplasia Sensorimotor neuropathy Impaired vibration sensation in the lower limbs Distal lower limb amyotrophy Exaggerated startle response Progressive spastic paraplegia Hyperreflexia proximally Sensory axonal neuropathy Delayed gross motor development Visual impairment Talipes equinovarus Absent speech Molar tooth sign on MRI Encephalopathy Abnormality of extrapyramidal motor function Sensory neuropathy Distal amyotrophy Hyperhidrosis Pes cavus Muscular hypotonia of the trunk Kyphosis Pain Motor axonal neuropathy Decreased number of peripheral myelinated nerve fibers Myoclonus Abnormality of the cerebral white matter Easy fatigability Rotary nystagmus Dysdiadochokinesis Incoordination Horizontal nystagmus Brain atrophy Dysmetria Neurological speech impairment Gait disturbance Decreased fetal movement Hypoplasia of the corpus callosum Areflexia Respiratory insufficiency Ptosis Alternating esotropia Limb hypertonia Status epilepticus Epileptic encephalopathy Generalized myoclonic seizures Abnormality of the eye Functional motor deficit Irritability Mental deterioration Rigidity Fever Abnormality of brain morphology Spastic diplegia Cerebral palsy Abnormality of movement Hip dislocation Abnormality of the Achilles tendon Saccadic smooth pursuit Sensory impairment Limb joint contracture Dyskinesia Abnormality of the periventricular white matter Progressive spasticity Clonus Progressive microcephaly Postnatal microcephaly Intellectual disability, profound Delayed myelination Chorea Sleep disturbance Progressive spastic paraparesis



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