Ataxia, and Scoliosis

Diseases related with Ataxia and Scoliosis

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


Top matches:

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56; EIEE56


EIEE56 is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by intellectual disability, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia (summary by Guella et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56; EIEE56

Low match MYOCLONIC-ASTASTIC EPILEPSY


Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.

MYOCLONIC-ASTASTIC EPILEPSY Is also known as mae|emas|myoclonic atonic epilepsy|doose syndrome|epilepsy with myoclonic-astatic seizures|myoclonic-astatic epilepsy in early childhood|epilepsy with myoclonic-atonic seizures

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOCLONIC-ASTASTIC EPILEPSY

Low match X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA


X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia (see this term) characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.

X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA Is also known as x-linked sideroblastic anemia with ataxia|xlsa-a|pagon-bird-detter syndrome

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA

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Other less relevant matches:

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 4F


Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4F Is also known as cmt4f

Related symptoms:

  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4F

Low match ATYPICAL JUVENILE PARKINSONISM


Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Fatigue
  • Dystonia


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL JUVENILE PARKINSONISM

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59; EIEE59


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59; EIEE59

Low match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6


A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6 Is also known as north sea progressive myoclonus epilepsy|pme type 6|gosr2-related progressive myoclonus ataxia|epm6|progressive myoclonus epilepsy type 6

Related symptoms:

  • Seizures
  • Scoliosis
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6

Low match FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY


Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY Is also known as juberg-hellman syndrome|efmr|epilepsy, female-restricted, with mental retardation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; EIEE13


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; EIEE13

Low match ROUSSY-LÉVY SYNDROME


ROUSSY-LÉVY SYNDROME Is also known as hereditary areflexic dystasia, roussy-lÉvy type|roussy-levy syndrome

Related symptoms:

  • Ataxia
  • Nystagmus
  • Motor delay
  • Tremor
  • Gait disturbance


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROUSSY-LÉVY SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Scoliosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Absence seizures Uncommon - Between 30% and 50% cases
Epileptic encephalopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Autistic behavior Abnormality of movement Febrile seizures Dystonia Gait ataxia Atonic seizures Aggressive behavior Pes cavus Areflexia Developmental regression Generalized tonic-clonic seizures Myoclonus Tremor Dysarthria Autism Focal-onset seizure Status epilepticus

Rare Symptoms - Less than 30% cases


Decreased motor nerve conduction velocity Peripheral neuropathy Encephalopathy Clumsiness Difficulty walking Distal muscle weakness Distal amyotrophy Distal sensory impairment Sensory neuropathy Cerebellar atrophy Cutaneous photosensitivity Onion bulb formation Generalized hypotonia Hyporeflexia Fever Infantile spasms Hypsarrhythmia Inability to walk Brain atrophy Motor delay Decreased number of peripheral myelinated nerve fibers Hyperactivity Hyperreflexia Delayed speech and language development EEG abnormality Nystagmus Falls Generalized myoclonic seizures Babinski sign Progressive cerebellar ataxia Elevated serum creatine phosphokinase Syndactyly Anxiety Attention deficit hyperactivity disorder Poor eye contact Broad-based gait Self-injurious behavior Neurological speech impairment Focal impaired awareness seizure Motor deterioration Drooling Poor coordination Obsessive-compulsive trait Sleep disturbance Eyelid fasciculation Absent speech Ventriculomegaly Mental deterioration Slowed slurred speech Mutism Intellectual disability, severe Spasticity Global brain atrophy Upper limb postural tremor Segmental peripheral demyelination/remyelination Abnormality of the immune system Hammertoe Frequent falls Abnormal cerebellum morphology Abnormality of the foot Kyphoscoliosis Gait disturbance Epileptic spasms Progressive microcephaly Cognitive impairment Generalized-onset seizure Severe global developmental delay Cerebral atrophy Pain Microcephaly Intermittent hyperventilation Hemiclonic seizures Bruxism Hyperventilation Psychosis Short stepped shuffling gait Abnormality of nervous system physiology Weak voice Leg muscle stiffness Skeletal muscle atrophy Sensory impairment Myoclonic atonic seizures Strabismus Unsteady gait Lower limb muscle weakness Limb muscle weakness Muscular hypotonia Paralysis Anemia Intrauterine growth retardation Abnormality of metabolism/homeostasis Foot dorsiflexor weakness Muscle weakness Nonprogressive cerebellar ataxia Sideroblastic anemia Hypochromic microcytic anemia Hyperactive deep tendon reflexes Microcytic anemia Dysdiadochokinesis Incoordination Clonus Intention tremor Peripheral demyelination Steppage gait Anarthria Impulsivity Dysmetria Shuffling gait Hypomimic face Resting tremor Akinesia Involuntary movements Bradykinesia Postural instability Abnormal pyramidal sign Rigidity Abnormal brain FDG positron emission tomography EEG with abnormally slow frequencies EEG with spike-wave complexes (>3.5 Hz) Fatigue Myelin tomacula Basal lamina onion bulb formation Vocal cord paresis Sensory ataxia Decreased number of large peripheral myelinated nerve fibers Vocal cord paralysis Photosensitive tonic-clonic seizures Eyelid myoclonus Hypertrophic nerve changes



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