Flexion contracture, and Progressive cerebellar ataxia

Diseases related with Flexion contracture and Progressive cerebellar ataxia

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

Top matches:

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

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

Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia (Jen et al., 2007). Genetic Heterogeneity of Episodic AtaxiaEpisodic ataxia is a genetically heterogeneous disorder. See also EA2 (OMIM ), caused by mutation in the CACNA1A gene (OMIM ) on chromosome 19p13; EA3 (OMIM ), which maps to chromosome 1q42; EA4 (OMIM ); EA5, caused by mutation in the CACNB4 gene (OMIM ) on chromosome 2q22-q23; EA6 (OMIM ), caused by mutation in the SLC1A3 gene (OMIM ) on chromosome 5p13; EA7 (OMIM ), which maps to chromosome 19q13; and EA8 (OMIM ), which maps to chromosome 1p36-p34.Isolated myokymia-2 (see {121200}) is associated with mutation in the KCNQ2 gene (OMIM ).

EPISODIC ATAXIA, TYPE 1; EA1 Is also known as ataxia, episodic, with myokymia|paroxysmal ataxia with neuromyotonia, hereditary|eam|episodic ataxia with myokymia|aemk|aem|myokymia with periodic ataxia

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 1; EA1

Other less relevant matches:

MYOPATHY AND DIABETES MELLITUS Is also known as mitochondrial myopathy, lipid type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYOPATHY AND DIABETES MELLITUS

Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (OMIM ), SCA2, and SCA3, or Machado-Joseph disease (OMIM ). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 2; SCA2 Is also known as wadia-swami syndrome|spinocerebellar ataxia, cuban type|olivopontocerebellar atrophy, holguin type|spinocerebellar degeneration with slow eye movements|olivopontocerebellar atrophy ii|spinocerebellar atrophy ii|cerebellar degeneration with slow eye moveme

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 2; SCA2

INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE Is also known as imnepd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE

Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease.Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008).

MACHADO-JOSEPH DISEASE; MJD Is also known as spinocerebellar ataxia 3|spinocerebellar atrophy iii|spinopontine atrophy|azorean neurologic disease|nigrospinodentatal degeneration|sca3

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MACHADO-JOSEPH DISEASE; MJD

Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6|xp, group f|xeroderma pigmentosum vi

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (OMIM ) is a form of 'free' sialic acid disease. ClassificationLowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

NEURAMINIDASE DEFICIENCY Is also known as neug deficiency|neuraminidase 1 deficiency|glycoprotein neuraminidase deficiency|neu1 deficiency|mucolipidosis i|neu deficiency|lipomucopolysaccharidosis|sialidase deficiency|ml i|sialidosis, type ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURAMINIDASE DEFICIENCY

Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

CEREBROTENDINOUS XANTHOMATOSIS Is also known as cerebral cholesterinosis|sterol 27-hydroxylase deficiency|ctx

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEREBROTENDINOUS XANTHOMATOSIS

Top 5 symptoms//phenotypes associated to Flexion contracture and Progressive cerebellar ataxia

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Tremor Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Flexion contracture and Progressive cerebellar ataxia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus

Common Symptoms - More than 50% cases

Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases

Myoclonus Dementia Cerebellar atrophy Rigidity Neurodegeneration Truncal ataxia Gait ataxia Hyporeflexia Seizures Skeletal muscle atrophy Spasticity Cognitive impairment Hyperreflexia Motor delay Postural instability Muscle cramps Parkinsonism Abnormal cerebellum morphology Sensorineural hearing impairment Fasciculations Visual impairment Abnormality of the eye Global developmental delay Cerebral atrophy Dystonia Muscular hypotonia Hearing impairment Abnormality of extrapyramidal motor function Gaze-evoked nystagmus Short stature Limb ataxia Babinski sign Mental deterioration Unsteady gait Progressive neurologic deterioration Slurred speech Palatal myoclonus Sensory neuropathy

Rare Symptoms - Less than 30% cases

Failure to thrive Cataract Hypometric saccades Dilated fourth ventricle Microcephaly Optic atrophy Diplopia Dysphagia Olivopontocerebellar atrophy Spinocerebellar tract degeneration Growth delay Urinary bladder sphincter dysfunction Pallor Chorea Ophthalmoplegia Abnormality of eye movement Dysmetria Hepatomegaly External ophthalmoplegia Downbeat nystagmus Impaired horizontal smooth pursuit Bradykinesia Impaired vibratory sensation Spinal muscular atrophy Neuronal loss in central nervous system Distal amyotrophy Depressivity Dysmetric saccades Diabetes mellitus Hallucinations Elevated serum creatine phosphokinase Postural tremor Delusions Pain Abnormal pyramidal sign Myokymia Choreoathetosis Supranuclear ophthalmoplegia Abnormality of the nervous system Cerebellar vermis atrophy Proteinuria Episodic ataxia Difficulty walking Delayed speech and language development Scoliosis Abnormality of the cerebral white matter Microdontia Prominent nose Delayed myelination Brain atrophy Ascites Astigmatism Renal insufficiency Progressive visual loss Papule Attention deficit hyperactivity disorder Waddling gait Erythema Hyperactivity Photophobia Deeply set eye Cutaneous photosensitivity Numerous pigmented freckles Decreased body weight Cholangiocarcinoma Seborrheic keratosis Blindness Splenomegaly Kyphosis Hernia Visual loss Inguinal hernia Dyspnea Osteopenia Skeletal dysplasia Coarse facial features Defective DNA repair after ultraviolet radiation damage Falls Morphological abnormality of the central nervous system Hepatosplenomegaly Verrucae Pectus carinatum Tubular atrophy Corneal opacity Abnormality of movement Freckling Neoplasm of the skin Cardiomyopathy Cafe-au-lait spot Bone marrow hypocellularity Increased urinary O-linked sialopeptides Cardiomegaly Angina pectoris Intention tremor Myocardial infarction Cholestasis Chronic diarrhea Nephrolithiasis Joint dislocation Atherosclerosis Hypercholesterolemia Abnormality of vision Cholelithiasis Agitation Abnormality of the periventricular white matter Frontotemporal dementia Xanthomatosis Hepatitis Precocious atherosclerosis Decreased HDL cholesterol concentration Myelopathy Pseudobulbar paralysis Xanthelasma Giant cell hepatitis Juvenile cataract Tendon xanthomatosis Abnormality of cholesterol metabolism Frontal lobe dementia EMG: axonal abnormality Abnormality of the dentate nucleus EEG with generalized slow activity Tuberous xanthoma Optic disc pallor Cerebral calcification Hydrops fetalis Hypertension Laryngomalacia Hyperactive deep tendon reflexes Epiphyseal stippling Syringomyelia Hand tremor Thoracic kyphosis Barrel-shaped chest Dysostosis multiplex Foam cells Vacuolated lymphocytes Facial edema Cherry red spot of the macula Bone-marrow foam cells Urinary excretion of sialylated oligosaccharides Paraplegia Respiratory insufficiency Diarrhea Behavioral abnormality Intellectual disability, mild Osteoporosis Jaundice EEG abnormality Aggressive behavior Developmental regression Joint stiffness Neurological speech impairment Spastic paraplegia Congenital cataract Malabsorption Intrauterine growth retardation Hip dislocation Feeding difficulties Mitochondrial myopathy Myopathy Proximal muscle weakness Myalgia Facial palsy Limb muscle weakness Type II diabetes mellitus Progressive muscle weakness Type I diabetes mellitus Exercise intolerance Ragged-red muscle fibers EMG: myopathic abnormalities Proximal amyotrophy Facial myokymia Peripheral arterial stenosis Decreased activity of mitochondrial complex IV Weakness of orbicularis oculi muscle Rod-cone dystrophy Neonatal hypotonia Apnea Retinopathy Retinal degeneration Dyskinesia Sleep disturbance Nevus Pigmentary retinopathy Fatigue Tetany Oculomotor apraxia Headache Fever Poor speech Peripheral axonal neuropathy Clumsiness Leukoencephalopathy Sensory ataxia Sensory impairment Hyporeflexia of lower limbs Saccadic smooth pursuit Abnormality of the Achilles tendon Hypertonia Vertigo Hypomagnesemia Nausea Inability to walk Esotropia Cyanosis Spastic gait Muscle stiffness Cerebral palsy Hyperkinesis Incoordination Abnormality of the hand Blurred vision Muscle fibrillation Broad-based gait Drooling Anemia Decreased number of peripheral myelinated nerve fibers Proptosis Anxiety Leukemia Confusion Polyneuropathy Gliosis Abnormal autonomic nervous system physiology Back pain Ophthalmoparesis Akinesia Amyotrophic lateral sclerosis Atrophy/Degeneration affecting the brainstem Pancreatic fibrosis Progressive external ophthalmoplegia Absent Achilles reflex Spastic dysarthria Tongue fasciculations Low back pain Chronic pain Torsion dystonia Restless legs Delirium Facial-lingual fasciculations Abnormal electrooculogram Neoplasm Ptosis Ankle contracture Poor head control Midface retrusion Dysdiadochokinesis Resting tremor Poor coordination Action tremor Slow saccadic eye movements Pontocerebellar atrophy Hypopnea Central nervous system degeneration Hypertelorism Abnormal facial shape Talipes equinovarus Brachycephaly Exocrine pancreatic insufficiency Hypothyroidism Thin upper lip vermilion Distal muscle weakness Decreased fetal movement Postnatal microcephaly Exotropia Hepatic fibrosis Progressive microcephaly Sensorimotor neuropathy Proximal placement of thumb Steatorrhea Shawl scrotum Abnormality of central somatosensory evoked potentials


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