Ataxia, and Pes planus

Diseases related with Ataxia and Pes planus

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


Top matches:

Medium match NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES; NEDMAS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES; NEDMAS

Medium match LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET


The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by Jokela et al., 2011).

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET

Medium match AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY


Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY Is also known as autosomal recessive spinocerebellar ataxia type 13|scar13|autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

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 CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3


Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3 Is also known as charcot-marie-tooth disease with focally folded myelin|cmt4b3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3

Medium match EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME


Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.

EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME Is also known as ndgoa|neurodegeneration with optic atrophy, childhood-onset

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME

Medium match ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT


Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

Medium match RETT SYNDROME, CONGENITAL VARIANT


The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT ), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RETT SYNDROME, CONGENITAL VARIANT

Medium match NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL


NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL

Medium match AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3


The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3 Is also known as cpd iii|scar2|cpd3|cerebellar granular cell hypoplasia and mental retardation, congenital|autosomal recessive spinocerebellar ataxia type 2|cerebellar hypoplasia, nonprogressive norman type|cerebelloparenchymal disorder iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3

Top 5 symptoms//phenotypes associated to Ataxia and Pes planus

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Ataxia and Pes planus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria Tremor Dysmetria Gait ataxia Cerebellar atrophy Nystagmus Hyperreflexia Cognitive impairment Intention tremor Motor delay Scoliosis Short stature Spasticity Gait disturbance Strabismus Areflexia Babinski sign Pes cavus Muscle weakness Absent speech Dysdiadochokinesis

Rare Symptoms - Less than 30% cases


Skeletal muscle atrophy Delayed speech and language development Intellectual disability, moderate Intellectual disability, severe Unsteady gait Cerebellar hypoplasia Neonatal hypotonia Arachnodactyly Cataract Muscular hypotonia Broad-based gait Distal sensory impairment Pachygyria Cerebral atrophy Inability to walk Talipes equinovarus Feeding difficulties High palate Delayed ability to walk Dystonia Peripheral neuropathy Cortical gyral simplification Flexion contracture Chorea Delayed myelination Aggressive behavior Nonprogressive cerebellar ataxia Hearing impairment Gaze-evoked nystagmus Bruxism Ventriculomegaly Difficulty walking Hyporeflexia Fasciculations Horizontal nystagmus Polyneuropathy Gaze-evoked horizontal nystagmus Sensory impairment Gliosis Limb ataxia Constipation Sensory ataxia Incoordination Abnormal cerebellum morphology Encephalopathy Kyphosis Hyperactive deep tendon reflexes Hypoplasia of the corpus callosum Growth delay Impaired tactile sensation Abnormal facial shape Narrow nasal bridge Impaired proprioception Distal arthrogryposis Ocular albinism Gastroesophageal reflux Long nose Myopathic facies Sensory axonal neuropathy Impaired vibratory sensation Poor head control Enlarged cisterna magna Sandal gap Joint contracture of the hand Hip dysplasia Sensory neuropathy Autism Postnatal growth retardation EEG abnormality Dilated fourth ventricle Tongue thrusting Epicanthus Synophrys Joint hypermobility Everted lower lip vermilion Tapered finger Inappropriate laughter Involuntary movements Low frustration tolerance Impaired social interactions Breathing dysregulation Generalized hypopigmentation Sensorineural hearing impairment Poor eye contact Athetosis Developmental regression Drooling Aspiration Progressive microcephaly Postnatal microcephaly Abnormality of the retinal vasculature Behavioral abnormality White hair Apraxia Malabsorption Hypopigmentation of the skin Dyskinesia Genu valgum Low-set ears Irritability Peripheral axonal neuropathy Myopia Abnormality of the foot Abnormality of ocular abduction Hypometric saccades Difficulty standing Limb dysmetria Functional motor deficit Retrocerebellar cyst Inferior vermis hypoplasia Abnormality of metabolism/homeostasis Esotropia Abnormality of the eye Poor speech Abnormality of movement Progressive cerebellar ataxia Truncal ataxia Cerebral palsy Intellectual disability, profound Abnormality of eye movement Hypoplasia of the brainstem Spinal muscular atrophy Myopathy Elevated serum creatine phosphokinase Dementia Muscle cramps Progressive muscle weakness Ragged-red muscle fibers Hammertoe Neurological speech impairment Calf muscle hypertrophy Amyotrophic lateral sclerosis Mitochondrial myopathy Frontotemporal dementia Bulbar signs Ptosis Abnormal pyramidal sign Abnormality of vision Toe walking Arthrogryposis multiplex congenita Facial myokymia Sensorimotor neuropathy Myotonia Ankle clonus Myokymia Titubation Upper limb spasticity Head titubation Tetraparesis Wide nasal bridge Abnormality of the skeletal system Respiratory insufficiency Thin upper lip vermilion Camptodactyly Distal muscle weakness Clonus Progressive visual loss Pain Brain atrophy Syndactyly Glaucoma Facial palsy Ophthalmoplegia Limb muscle weakness Lower limb muscle weakness Urinary incontinence Neurodegeneration Decreased nerve conduction velocity Onion bulb formation Optic atrophy Visual loss Pectus carinatum Spastic paraplegia Paraplegia Saccadic smooth pursuit



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Lymphoma and Encephalitis, related diseases and genetic alterations Tremor and Congenital cataract, related diseases and genetic alterations Myopathy and Macular degeneration, related diseases and genetic alterations Ptosis and Underdeveloped nasal alae, related diseases and genetic alterations Immunodeficiency and Photophobia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more