Ataxia, and Hyperlordosis

Diseases related with Ataxia and Hyperlordosis

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


Top matches:

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 44


Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 44 Is also known as spg44

Related symptoms:

  • Seizures
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 44

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB


MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Medium match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR


Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

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Other less relevant matches:

Medium match DYSTONIA, DOPA-RESPONSIVE; DRD


DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

Medium match SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME


Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME Is also known as spastic paraplegia-psychomotor retardation-seizures syndrome|spprs syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME

Medium match MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S


Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Medium match TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1


Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

Medium match ALEXANDER DISEASE; ALXDRD


In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Medium match CAMURATI-ENGELMANN DISEASE


Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

CAMURATI-ENGELMANN DISEASE Is also known as diaphyseal dysplasia 1, progressive|engelmann disease|progressive diaphyseal dysplasia|dpd1|ced|pdd

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAMURATI-ENGELMANN DISEASE

Top 5 symptoms//phenotypes associated to Ataxia and Hyperlordosis

Symptoms // Phenotype % cases
Scoliosis Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Difficulty walking Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Dysarthria

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Short stature Tremor Gait disturbance Generalized hypotonia Microcephaly Kyphosis Paraplegia Spastic paraplegia Gait ataxia Lumbar hyperlordosis Constipation Pes planus Hearing impairment Waddling gait Hypothyroidism Abnormal facial shape Hypertelorism Micrognathia Abnormal cerebellum morphology Muscle weakness High palate Feeding difficulties Growth delay Absent speech Dystonia Fatigue Pain Motor delay Nystagmus Strabismus Sensorineural hearing impairment Cognitive impairment Macrotia Hyperreflexia Hypoplasia of the corpus callosum Dysmetria Developmental regression Frontal bossing Myopia Delayed speech and language development Carious teeth Macrocephaly Lower limb spasticity

Rare Symptoms - Less than 30% cases


Cerebral atrophy Abnormality of the skeletal system Muscular hypotonia Generalized tonic-clonic seizures Brisk reflexes Depressivity Dysphonia Abnormal pyramidal sign Sleep disturbance Kyphoscoliosis Talipes equinovarus Hypertension Slender build Abnormality of movement Megalencephaly Delayed skeletal maturation Unsteady gait EEG abnormality Diplopia Neurological speech impairment Facial palsy Delayed eruption of teeth Osteopenia Hypogonadism Infantile muscular hypotonia Scapular winging Chorea Muscular dystrophy Proximal muscle weakness Hyporeflexia Inability to walk Hepatomegaly Truncal ataxia Delayed puberty Sparse hair Diabetes mellitus Proptosis Intrauterine growth retardation Exophoria Cerebral white matter atrophy Progressive spastic paraplegia Delayed myelination Downturned corners of mouth Mandibular prognathia Fine hair Cerebral cortical atrophy Babinski sign Leukodystrophy Obsessive-compulsive behavior Self-injurious behavior Leukoencephalopathy CNS hypomyelination Hypotelorism Pes cavus Pectus carinatum Hydrocephalus Failure to thrive Attention deficit hyperactivity disorder Epicanthus Hypertonia Flexion contracture Joint laxity Behavioral abnormality Anxiety Downslanted palpebral fissures Hyperactivity Posteriorly rotated ears Cerebellar atrophy Urinary incontinence Sparse scalp hair Cough Tetraplegia Abnormality of eye movement Nausea and vomiting Abnormality of the cerebral white matter Protruding ear Weight loss Stroke Gliosis Respiratory failure Hyperhidrosis Dementia Agenesis of corpus callosum Vomiting Sudden cardiac death Thin upper lip vermilion Low-set, posteriorly rotated ears Short neck Arthralgia Hypotension Amenorrhea Peripheral demyelination Sensory impairment Cerebral calcification Recurrent respiratory infections Alopecia Clonus Muscle stiffness Long philtrum Abnormal autonomic nervous system physiology Sleep apnea Respiratory insufficiency Dysphagia Osteoarthritis Distal sensory impairment Slow-growing hair Avascular necrosis of the capital femoral epiphysis Spondylolisthesis Sparse lateral eyebrow Bulbous nose Short finger Short metacarpal Spastic ataxia Dental malocclusion Microdontia Cone-shaped epiphysis Deep philtrum Short metatarsal Narrow palate Smooth philtrum Hypotrichosis Ptosis Abnormally low-pitched voice Ivory epiphyses of the distal phalanges of the hand Swelling of proximal interphalangeal joints Cone-shaped epiphyses of the proximal phalanges of the hand Chin with horizontal crease Accelerated bone age after puberty Coxa magna Cone-shaped epiphyses of the middle phalanges of the hand Concave nail Pear-shaped nose Encephalitis Flat capital femoral epiphysis Pseudohypoparathyroidism Leukonychia Thin eyebrow Thin nail Progressive spasticity Precocious puberty Metaphyseal dysplasia Abnormality of the ulna Raynaud phenomenon Gangrene Abnormality of the skull Poor appetite Aplasia/Hypoplasia of the radius Abnormality of the vertebral column Elevated erythrocyte sedimentation rate Abnormality of tibia morphology Reduced subcutaneous adipose tissue Hyperostosis Cachexia Abnormality of pelvic girdle bone morphology Easy fatigability Tinnitus Increased intracranial pressure Leukopenia Facial paralysis Abnormality of femur morphology Vasculitis Cranial nerve compression Abnormal subcutaneous fat tissue distribution Cortical thickening of long bone diaphyses Cortical sclerosis Craniofacial osteosclerosis Optic nerve compression Diaphyseal dysplasia Diaphyseal sclerosis Abnormality of the radius Extramedullary hematopoiesis Limb pain Cranial hyperostosis Sclerosis of skull base Lower limb pain Abnormal diaphysis morphology Urinary retention Abnormality of the humerus Otosclerosis Coxa valga Bone marrow hypocellularity Oral-pharyngeal dysphagia Hypothermia Recurrent singultus Progressive macrocephaly Pseudobulbar signs Large face Hypersomnia Aqueductal stenosis Bulbar signs Poor coordination Microcoria Increased CSF protein Drowsiness Atrophy/Degeneration affecting the brainstem Muscle fibrillation Abnormal levels of creatine kinase in blood Bowel incontinence Dysphasia Emotional lability Hyperpigmented nevi Diffuse demyelination of the cerebral white matter Increased bone mineral density Feeding difficulties in infancy Bone pain Anorexia Limitation of joint mobility Sensory neuropathy Vertigo Genu valgum Paralysis Hypertrophic cardiomyopathy Anemia Abnormality of the nervous system Hepatosplenomegaly Skeletal dysplasia Glaucoma Headache Splenomegaly Optic atrophy Skeletal muscle atrophy Brachydactyly Restrictive ventilatory defect Intellectual disability, borderline Impaired vibration sensation in the lower limbs Parkinsonism with favorable response to dopaminergic medication Torsion dystonia Upper motor neuron dysfunction Focal dystonia Generalized dystonia Limb dystonia Hyperactive deep tendon reflexes Writer's cramp Resting tremor Lower limb hyperreflexia Gaze-evoked nystagmus Thick vermilion border Spastic diplegia Postural tremor Rheumatoid arthritis Oromandibular dystonia Axial dystonia Cerebral palsy Obesity Retinal dystrophy Autistic behavior Abnormality of the foot Wide mouth Hip dislocation Muscular hypotonia of the trunk Deeply set eye Short philtrum Infantile encephalopathy Paresis of extensor muscles of the big toe Decreased CSF homovanillic acid Abnormality of the substantia nigra Fixed facial expression Transient hyperphenylalaninemia Progressive flexion contractures Obsessive-compulsive trait Underdeveloped nasal alae Torticollis Generalized myoclonic seizures High myopia Long foot Malar flattening Long fingers Disproportionate tall stature Large hands Sparse eyebrow Tall stature Overgrowth Metopic synostosis Triangular face Long face Arachnodactyly Prominent nasal bridge Cerebellar hypoplasia High forehead Prominent forehead Communicating hydrocephalus Expressive language delay Horizontal nystagmus Irritability Involuntary movements Abnormality of extrapyramidal motor function Bradykinesia Parkinsonism Confusion Short palpebral fissure Thick lower lip vermilion Rigidity Long neck Postnatal microcephaly Encephalopathy Stereotypy Low-set ears Ventriculomegaly Severe expressive language delay Thick corpus callosum Aggressive behavior Gastroesophageal reflux Right ventricular dilatation Elevated hepatic transaminase Muscle cramps Hepatic steatosis Poor speech Congenital cataract Abnormality of the liver Myalgia Delayed gross motor development Hyperkeratosis Focal-onset seizure Brachycephaly Elevated serum creatine phosphokinase Slurred speech Myopathy Ankle contracture Cataract Abnormality of visual evoked potentials Spastic gait Hip dysplasia Increased vertebral height Upslanted palpebral fissure Alacrima Muscle fiber atrophy Recurrent ear infections Speech apraxia Achalasia Esophagitis Progressive proximal muscle weakness Adrenal insufficiency Generalized-onset seizure Athetosis Impulsivity Gowers sign Limb-girdle muscular dystrophy Intention tremor Clumsiness Apraxia Urinary bladder sphincter dysfunction Kinetic tremor Tetraparesis Absent pubertal growth spurt Abnormal motor evoked potentials Narrow mouth Abnormality of somatosensory evoked potentials Pectus excavatum Intellectual disability, severe Cryptorchidism Focal myoclonic seizures Abnormality of the musculature of the lower limbs Abnormal auditory evoked potentials Delayed peripheral myelination Structural foot deformity Puberty and gonadal disorders Overweight Autism Fasciculations Broad-based gait Small for gestational age Full cheeks Recurrent hypoglycemia Hypoplasia of the brainstem Prominent superficial veins Maternal diabetes Down-sloping shoulders Ketoacidosis High pitched voice Polyuria Hyperglycemia Polydipsia Round face Oligodontia Type I diabetes mellitus Slow saccadic eye movements Abnormal vertebral morphology Upper limb spasticity Renal hypoplasia Blue sclerae Elevated aldolase level



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