Ataxia, and Paraplegia

Diseases related with Ataxia and Paraplegia

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


Top matches:

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 27


Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 27 Is also known as spg27

Related symptoms:

  • Sensorineural hearing impairment
  • Spasticity
  • Hyperreflexia
  • Dysarthria
  • Babinski sign


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 27

Medium match PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY


Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).

PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY Is also known as dyt9|cse choreoathetosis, paroxysmal, with episodic ataxia|episodic choreoathetosis/spasticity|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|choreoathetosis/spasticity, episodic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39


This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39 Is also known as spastic paraplegia due to neuropathy target esterase mutation|spg39|nte-related motor neuron disorder|spastic paraplegia due to nte mutation|ntemnd

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39

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Other less relevant matches:

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 AUTOSOMAL SPASTIC PARAPLEGIA TYPE 30


Autosomal spastic paraplegia type 30 is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.

AUTOSOMAL SPASTIC PARAPLEGIA TYPE 30 Is also known as spg30

Related symptoms:

  • Ataxia
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL SPASTIC PARAPLEGIA TYPE 30

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 76


Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 76 Is also known as spg76

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Spasticity
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 76

Medium match PERRAULT SYNDROME 3; PRLTS3


Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals (summary by Jenkinson et al., 2013).For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (OMIM ).

PERRAULT SYNDROME 3; PRLTS3 Is also known as dfnb81, formerly|deafness, autosomal recessive 81, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PERRAULT SYNDROME 3; PRLTS3

Medium match ALZHEIMER DISEASE 3; AD


ALZHEIMER DISEASE 3; AD Is also known as alzheimer disease, familial, 3|alzheimer disease 3, early-onset

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about ALZHEIMER DISEASE 3; AD

Medium match AUTOSOMAL DOMINANT SPASTIC ATAXIA TYPE 1


AUTOSOMAL DOMINANT SPASTIC ATAXIA TYPE 1 Is also known as spax1

Related symptoms:

  • Seizures
  • Ptosis
  • Hyperreflexia
  • Tremor
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC ATAXIA TYPE 1

Medium 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

Top 5 symptoms//phenotypes associated to Ataxia and Paraplegia

Symptoms // Phenotype % cases
Spastic paraplegia Very Common - Between 80% and 100% cases
Spasticity Very Common - Between 80% and 100% cases
Hyperreflexia Common - Between 50% and 80% cases
Babinski sign Common - Between 50% and 80% cases
Lower limb spasticity Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Gait disturbance Seizures Spastic gait Dysarthria Dystonia Lower limb hyperreflexia Skeletal muscle atrophy Peripheral neuropathy Dysphagia Hypertonia Pes cavus Memory impairment Progressive spastic paraplegia Cognitive impairment Leg muscle stiffness Spastic paraparesis Paraparesis

Rare Symptoms - Less than 30% cases


Neuronal loss in central nervous system Slow saccadic eye movements Abnormality of eye movement Supranuclear gaze palsy Spastic ataxia Ptosis Sensory impairment Ankle clonus Lower limb muscle weakness Distal amyotrophy Gait ataxia Cerebellar atrophy Sensorineural hearing impairment Dysmetria Global developmental delay Scoliosis Nystagmus Distal sensory impairment Limb ataxia Intellectual disability Headache Microcephaly Spastic tetraparesis Hypoplasia of the uterus Secondary amenorrhea Dementia Myoclonus Alzheimer disease Cerebral cortical atrophy Abnormality of the cerebral white matter Rigidity Mental deterioration Tetraparesis Ophthalmoplegia Personality changes Brain atrophy Mutism Abnormality of extrapyramidal motor function Psychosis Leukoencephalopathy Apraxia Shuffling gait Dysphasia Impaired vibration sensation in the lower limbs Spastic diplegia Cerebral palsy Spastic tetraplegia Abnormality of movement Hip dislocation Intellectual disability, severe Flexion contracture Jerky head movements Abnormality of the cerebrospinal fluid Impaired proprioception Spastic dysarthria Abnormal eyelid morphology Generalized amyotrophy Neurofibrillary tangles Difficulty walking Tremor Optic ataxia Limb apraxia Agnosia Dyscalculia Anarthria Dysgraphia Primitive reflex Premature ovarian insufficiency Lewy bodies Frontotemporal dementia Delusions Congenital sensorineural hearing impairment Abnormal saccadic eye movements Hypergonadotropic hypogonadism Choreoathetosis Abnormality of the skeletal system Paroxysmal choreoathetosis Paroxysmal dyskinesia Progressive spastic paraparesis Morphological abnormality of the pyramidal tract Episodic ataxia Brisk reflexes Clonus Diplopia Involuntary movements Dehydration Distal lower limb muscle weakness Migraine Postural instability Dyskinesia Paresthesia Generalized tonic-clonic seizures Abnormal pyramidal sign Abnormality of somatosensory evoked potentials Spastic/hyperactive bladder Impaired vibration sensation at ankles Dysdiadochokinesis Motor axonal neuropathy Atrophy of the spinal cord Primary amenorrhea Sensory axonal neuropathy Amenorrhea Delayed puberty Hypogonadism Growth delay Hearing impairment Short stature Functional abnormality of the bladder Hyperreflexia in upper limbs Pes valgus Progressive spasticity Abnormality of the foot Generalized limb muscle atrophy Abnormality of the nervous system Scissor gait Diffuse cerebellar atrophy Lower limb amyotrophy Urinary bladder sphincter dysfunction Sensorimotor neuropathy Abnormal cerebellum morphology Peripheral axonal neuropathy Unsteady gait Impaired vibratory sensation Abnormality of brain morphology



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