Ataxia, and Joint stiffness

Diseases related with Ataxia and Joint stiffness

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


Top matches:

Low match PAROXYSMAL NON-KINESIGENIC DYSKINESIA


Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.

PAROXYSMAL NON-KINESIGENIC DYSKINESIA Is also known as paroxysmal dystonic choreoathetosis|choreoathetosis, nonkinesigenic|pdc|dystonia 8|paroxystic non-kinesigenic choreoathetosis|dyt8|choreoathetosis, familial paroxysmal|mount-reback syndrome|fpd1

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Dysarthria
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about PAROXYSMAL NON-KINESIGENIC DYSKINESIA

Low match HEREDITARY HYPEREKPLEXIA


Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia|familial startle disease|kok disease|startle disease, familial|stiff baby syndrome|exaggerated startle reaction|sthe|congenital stiff man syndrome|stiff-baby syndrome|stiff-person syndrome, congenital|startle reaction, exaggerated

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY HYPEREKPLEXIA

Low match ARNOLD-CHIARI MALFORMATION TYPE I


Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.

ARNOLD-CHIARI MALFORMATION TYPE I Is also known as cm1|arnold-chiari malformation type 1|chiari malformation type 1|chiari malformation type i

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARNOLD-CHIARI MALFORMATION TYPE I

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Other less relevant matches:

Low match JABERI-ELAHI SYNDROME; JABELS


JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

Low match RETT SYNDROME


Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about RETT SYNDROME

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A


The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Low match WOLFRAM SYNDROME


Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

WOLFRAM SYNDROME Is also known as didmoad syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about WOLFRAM SYNDROME

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B


Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005).For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B Is also known as sanfilippo syndrome b|mps iiib|n-acetyl-alpha-d-glucosaminidase deficiency|naglu deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B

Low match PELIZAEUS-MERZBACHER DISEASE; PMD


Pelizaeus-Merzbacher disease is an X-linked recessive hypomyelinative leukodystrophy (HLD1) in which myelin is not formed properly in the central nervous system. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay (Inoue, 2005). Genetic Heterogeneity of Hypomyelinating LeukodystrophyOther forms of hypomyelinating leukodystrophy include HLD2 (OMIM ), caused by mutation in the GJC2/GJA12 gene (OMIM ) on chromosome 1q41; HLD3 (OMIM ), caused by mutation in the AIMP1 gene (OMIM ) on chromosome 4q24; HLD4 (OMIM ), caused by mutation in the HSPD1 gene (OMIM ) on chromosome 2q33.1; and HLD5 (OMIM ), caused by mutation in the FAM126A gene (OMIM ) on chromosome 7p15; HLD6 (OMIM ), caused by mutation in the TUBB4A gene (OMIM ) on chromosome 19p13; HLD7 (OMIM ), caused by mutation in the POLR3A gene (OMIM ) on chromosome 10q22; HLD8 (OMIM ), caused by mutation in the POLR3B gene (OMIM ) on chromosome 12q23; HLD9 (OMIM ), caused by mutation in the RARS gene (OMIM ) on chromosome 5; HLD10 (OMIM ), caused by mutation in the PYCR2 gene (OMIM ) on chromosome 1q42; HLD11 (OMIM ), caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21; HLD12 (OMIM ), caused by mutation in the VPS11 gene (OMIM ) on chromosome 11q23; HLD13 (OMIM ) caused by mutation in the HIKESHI gene (OMIM ) on chromosome 11q14; HLD14 (OMIM ), caused by mutation in the UFM1 gene (OMIM ) on chromosome 13q13; HLD15 (OMIM ), caused by mutation in the EPRS gene (OMIM ) on chromosome 1q41; HLD16 (OMIM ), caused by mutation in the TMEM106B gene (OMIM ) on chromosome 7p21; and HLD17 (OMIM ), caused by mutation in the AIMP2 gene (OMIM ) on chromosome 7p22.

PELIZAEUS-MERZBACHER DISEASE; PMD Is also known as leukodystrophy, hypomyelinating, 1|hld1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER DISEASE; PMD

Low match ALLAN-HERNDON-DUDLEY SYNDROME


Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Joint stiffness

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Behavioral abnormality Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hyperreflexia Abnormality of movement Scoliosis Dysarthria Dystonia Hearing impairment Dementia Gait disturbance Microcephaly Failure to thrive Intellectual disability, severe Sleep disturbance Nystagmus Cerebral cortical atrophy Choreoathetosis Involuntary movements Paraplegia Tremor Optic atrophy Hyporeflexia Dysphagia Delayed speech and language development Myoclonus Peripheral neuropathy Hepatomegaly Respiratory insufficiency Spastic paraplegia Muscle stiffness Tetraplegia Developmental regression Muscle weakness Babinski sign Generalized hypotonia

Rare Symptoms - Less than 30% cases


Cerebellar atrophy Muscular hypotonia Abnormality of the urinary system Visual impairment Leukodystrophy Abnormal facial shape Spastic tetraplegia Bowel incontinence Coarse facial features CNS hypomyelination Skeletal muscle atrophy Flexion contracture Neonatal hypotonia Rotary nystagmus Abnormal autonomic nervous system physiology Abnormality of the dentition Macrotia Splenomegaly Diarrhea Synophrys Hirsutism Progressive neurologic deterioration Limb ataxia Recurrent upper respiratory tract infections Coarse hair Dysostosis multiplex Asymmetric septal hypertrophy Heparan sulfate excretion in urine Thickened ribs Kyphosis Ovoid thoracolumbar vertebrae Dense calvaria Short stature Lower limb spasticity Broad-based gait Narrow forehead Inability to walk Dysmetria Feeding difficulties in infancy Protruding ear Absent speech Arnold-Chiari malformation Hyperactivity Urinary incontinence Generalized muscle weakness Gait ataxia Fasciculations Abnormality of the nervous system Abnormal pyramidal sign Myokymia Migraine Chorea Hypertonia Rigidity Neurological speech impairment Fatigue Headache Intellectual disability, progressive Myopathic facies Athetosis Poor head control Interphalangeal joint contracture of finger Drooling Cardiomyopathy Open mouth Malabsorption Myopathy Delayed puberty Constipation Type I diabetes mellitus Hypogonadism Bilateral single transverse palmar creases Anemia Glaucoma Narrow face Clonus Ophthalmoplegia Diabetes mellitus Hyperactive deep tendon reflexes Sensorineural hearing impairment Hypoplasia of the musculature Corneal opacity Stahl ear Abnormal conjugate eye movement Split hand Growth abnormality Thickened calvaria Restlessness Prominent antihelix Increased thyroid-stimulating hormone level Visceromegaly Hallux valgus Delayed CNS myelination Abnormality of the neck Central nervous system degeneration Macroorchidism Hypoplasia of the zygomatic bone Central hypotonia Biparietal narrowing Generalized amyotrophy Aphasia Nephropathy Increased serum lactate Cerebral calcification Reduction of oligodendroglia Premature birth Clumsiness Motor delay Increased body weight Cerebral palsy Feeding difficulties Cachexia Failure to thrive in infancy Spinal muscular atrophy Ptosis Spastic diplegia Progressive spasticity Recurrent respiratory infections Abnormality of visual evoked potentials Head tremor Arteriovenous malformation Diffuse cerebral sclerosis Psychomotor deterioration Scanning speech Congenital laryngeal stridor Progressive spastic quadriplegia Cerebral dysmyelination Macrogyria Sudanophilic leukodystrophy Paralysis Malar flattening Head titubation Pes planus Gastrointestinal hemorrhage Recurrent urinary tract infections Long face Abnormality of the foot Hallucinations Severe global developmental delay Camptodactyly of finger Abnormality of the pinna Polydipsia Diabetes insipidus Irritability Hypothyroidism Pectus excavatum Proptosis Upslanted palpebral fissure Dysuria Male hypogonadism Central apnea Gastric ulcer Abnormality of mesentery morphology Aggressive behavior Retinal degeneration Neurodegeneration Cardiomegaly Protuberant abdomen Stridor Sparse eyelashes Pneumonia Nausea Hiatus hernia Esophagitis Exaggerated startle response Nocturnal seizures Pain Dilatation Hyperhidrosis Photophobia Cough Limb muscle weakness Unsteady gait Paresthesia Vertigo Progressive cerebellar ataxia Hypokinesia Sensory impairment Diplopia Spastic gait Cranial nerve paralysis Increased intracranial pressure Tinnitus Urinary urgency Lower limb hyperreflexia Syringomyelia Arnold-Chiari type I malformation Vocal cord paralysis Fused cervical vertebrae Myelopathy Atonic seizures Loss of consciousness Stiff neck Fever Dyspnea Dyskinesia Torticollis Hyperkinesis Encephalitis Trismus Episodic ataxia Facial grimacing Paroxysmal dyskinesia Paroxysmal dystonia Kernicterus Paroxysmal choreoathetosis Staring gaze Hernia Myotonia Encephalopathy Inguinal hernia Gastroesophageal reflux Umbilical hernia Anxiety Apnea Hip dislocation Falls Epileptic encephalopathy Frequent falls Aspiration Congenital hip dislocation Joint dislocation Dysesthesia Central sleep apnea Thin fingernail Clinodactyly of the 5th finger Kyphoscoliosis Distal muscle weakness Pectus carinatum Talipes Joint hypermobility Dandy-Walker malformation Generalized-onset seizure Fine hair Brittle hair Sparse eyebrow Hand clenching Depressivity Arrhythmia Autism Cerebellar hypoplasia EEG abnormality Arthrogryposis multiplex congenita Apraxia Stereotypy Abnormality of the metacarpal bones Self-injurious behavior Hemiplegia/hemiparesis Decreased muscle mass Dysphasia Abnormality of the skull Acrocyanosis Abnormality of the antihelix Narrow foot Agenesis of corpus callosum Short nose Basilar impression Enlarged sagittal diameter of the cervical canal Cervical C2/C3 vertebral fusion Cranial nerve compression Hyperacusis Horner syndrome Recurrent paroxysmal headache Neck pain Basilar invagination Small posterior fossa Adult onset sensorineural hearing impairment Brain stem compression Distal peripheral sensory neuropathy Fatigable weakness of swallowing muscles Areflexia of upper limbs Abnormality of the vestibulocochlear nerve Hypoplasia of the corpus callosum Anteriorly placed odontoid process Abnormality of the musculature of the lower limbs Small flat posterior fossa Flat posterior fossa Abnormality of the clivus Abnormality of the twelfth cranial nerve Abnormality of the eleventh cranial nerve Functional abnormality of the inner ear Cataract Low-set ears Depressed nasal bridge Myopia Talipes equinovarus Underfolded superior helices



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