Ataxia, and Pes cavus

Diseases related with Ataxia and Pes cavus

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


Top matches:

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 SPINOCEREBELLAR ATAXIA TYPE 23


Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.

SPINOCEREBELLAR ATAXIA TYPE 23 Is also known as sca23

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 23

Medium match CHARCOT-MARIE-TOOTH DISEASE TYPE 4F


Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4F Is also known as cmt4f

Related symptoms:

  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

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

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Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY


AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY Is also known as mild peroxismal disorder due to pex10 deficiency

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Dysarthria
  • Intellectual disability, mild
  • Pes cavus


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY

Medium match ATYPICAL JUVENILE PARKINSONISM


Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Fatigue
  • Dystonia


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL JUVENILE PARKINSONISM

Medium match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7; NBIA7


Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7; NBIA7

Medium match SPINOCEREBELLAR ATAXIA TYPE 18


Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 18 Is also known as sca18

Related symptoms:

  • Hearing impairment
  • Nystagmus
  • Muscle weakness
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 18

Medium match CHARCOT-MARIE-TOOTH DISEASE TYPE 2P


Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated.

CHARCOT-MARIE-TOOTH DISEASE TYPE 2P Is also known as cmt2p|charcot-marie-tooth disease, axonal, type 2g, formerly|cmt2g, formerly|charcot-marie-tooth neuropathy, type 2p

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 2P

Medium match SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1


Hereditary spastic ataxia comprises a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Spastic ataxia-1 (SPAX1) is an autosomal dominant form of the disorder with linkage to chromosome 12p13 (summary by Meijer et al., 2002). Genetic Heterogeneity of Spastic AtaxiaSee also SPAX2 (OMIM ), caused by mutation in the KIF1C gene (OMIM ) on chromosome 17p13; SPAX3 (OMIM ), caused by rearrangements of the MARS2 gene (OMIM ) on chromosome 2q33; SPAX4 (OMIM ), caused by mutation in the MTPAP gene (OMIM ) on chromosome 10p11; SPAX5 (OMIM ), caused by mutation in the AFG3L2 gene (OMIM ) on chromosome 18p11; SPAX6 (OMIM ), caused by mutation in the SACS gene (OMIM ) on chromosome 13q12; SPAX7 (OMIM ); and SPAX8 (OMIM ), caused by mutation in the NKX6-2 gene (OMIM ) on chromosome 8q21.

Related symptoms:

  • Ataxia
  • Spasticity
  • Ptosis
  • Hyperreflexia
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1

Medium match SPINOCEREBELLAR ATAXIA 43; SCA43


Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 43; SCA43

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

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Sensory impairment Uncommon - Between 30% and 50% cases
Gait ataxia Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Areflexia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hyporeflexia Cerebellar atrophy Distal sensory impairment Muscle weakness Peripheral neuropathy Dysmetria Abnormal pyramidal sign Limb ataxia Sensory neuropathy Progressive cerebellar ataxia Hyperreflexia Distal amyotrophy Sensorimotor neuropathy Nystagmus Tremor Dystonia Peripheral axonal neuropathy Difficulty walking

Rare Symptoms - Less than 30% cases


Decreased motor nerve conduction velocity Impaired vibratory sensation Cerebellar vermis atrophy Rigidity Head tremor Leg muscle stiffness Spasticity Impaired distal vibration sensation Decreased number of peripheral myelinated nerve fibers Dysphagia Scoliosis Motor delay Distal muscle weakness Unsteady gait Pain Foot dorsiflexor weakness Steppage gait Slow saccadic eye movements Peripheral demyelination Babinski sign Polyneuropathy Neuronal loss in central nervous system Abnormality of eye movement Gait disturbance Fasciculations Hammertoe Dementia Delayed ability to walk Muscular hypotonia of the trunk Cerebral atrophy Hypoplasia of the corpus callosum Cogwheel rigidity Delayed speech and language development Slowed slurred speech Generalized hypotonia Loss of ability to walk Abnormality of nervous system physiology Short stepped shuffling gait Hypometric saccades Anarthria Limb pain Weak voice Shuffling gait Hypomimic face Resting tremor Distal lower limb amyotrophy Muscle fibrillation Hearing impairment Toe walking Axonal degeneration/regeneration Progressive distal muscle weakness Involuntary movements Difficulty standing Axonal degeneration Impotence Peripheral axonal degeneration Ptosis Hypertonia Spastic paraplegia Pectus carinatum Decreased nerve conduction velocity Abnormality of the foot Paraplegia Memory impairment Spastic gait Supranuclear gaze palsy Spastic ataxia Hyporeflexia of lower limbs Titubation Lower limb hyperreflexia Akinesia Intellectual disability, mild Bradykinesia Frontotemporal dementia Lower limb muscle weakness Limb muscle weakness Paralysis Kinetic tremor CNS demyelination Impaired proprioception Action tremor Impaired vibration sensation in the lower limbs Agenesis of corpus callosum Bulbar signs Mitochondrial myopathy Vocal cord paralysis Amyotrophic lateral sclerosis Calf muscle hypertrophy Spinal muscular atrophy Ragged-red muscle fibers Progressive muscle weakness Intention tremor Muscle cramps Pes planus Elevated serum creatine phosphokinase Myopathy Onion bulb formation Decreased number of large peripheral myelinated nerve fibers Brain atrophy Diffuse cerebellar atrophy Postural instability Inability to walk Abnormality of movement Myoclonus Fatigue Seizures Intellectual disability Abnormality of phytanic acid metabolism Very long chain fatty acid accumulation Abnormal head movements Mydriasis Sensory ataxia Motor axonal neuropathy Impaired smooth pursuit Progressive gait ataxia Oculomotor apraxia Truncal ataxia Type II diabetes mellitus Global developmental delay Myelin tomacula Basal lamina onion bulb formation Vocal cord paresis Palmomental reflex



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