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:
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
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
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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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
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
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
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
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
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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Nystagmus and Bradycardia, related diseases and genetic alterations
Scoliosis and Autism, related diseases and genetic alterations
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