Ataxia, and Amyotrophic lateral sclerosis

Diseases related with Ataxia and Amyotrophic lateral sclerosis

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


Top matches:

Medium match LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET


The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by Jokela et al., 2011).

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET

Medium match FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED


Clinically, FTLD-TDP is a type of frontotemporal dementia (see FTD; {600274}) which shows variable phenotypic expression, but most commonly presents with social, behavioral, or language deterioration, rather than memory or motor deficits. Other variations of the phenotype have been referred to as 'dysphasic disinhibition dementia' and 'primary progressive aphasia' (PPA) (Huey et al., 2006; Mukherjee et al., 2006; Mesulam et al., 2007). Some patients may present with a clinical diagnosis of Alzheimer disease (AD ) or Parkinson disease (PD ), which are part of the phenotypic spectrum of this disorder (Brouwers et al., 2007). Genetic Heterogeneity of FTLD-TDPThe specific presence of TDP43 (TARDBP )-positive inclusions on neuropathologic examination defines a genetically heterogeneous group of dementias known collectively as 'FTLD-TDP.' FTLD-TDP is a neuropathologic diagnosis; only about 20% of patients with this neuropathologic diagnosis have GRN mutations (review by Van Deerlin et al., 2010).TDP43-positive inclusions also occur in ALS10 (OMIM ), caused by mutation in the TARDBP gene (OMIM ); IBMPFD (OMIM ), caused by mutation in the VCP gene (OMIM ); and FTDALS (OMIM ), caused by mutation in the C9ORF72 gene (OMIM ).Mackenzie and Rademakers (2007) provided a detailed review of the molecular genetics of FTLD, with special emphasis on FTLDU. Cairns and Ghoshal (2010) reviewed the molecular pathology and genetic heterogeneity of FTLD, including FTLD-TDP, and also noted that FTLDU is now referred to as FTLD-TDP.

FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED Is also known as dementia, hereditary dysphasic disinhibition|ftld-tdp, grn-related|frontotemporal dementia with tdp43 inclusions, grn-related|ftldu|frontotemporal lobar degeneration with ubiquitin-positive inclusions|frontotemporal dementia, ubiquitin-positive|ftdu|hddd

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Tremor
  • Dysphagia
  • Behavioral abnormality


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED

Medium match FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2


Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2

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Other less relevant matches:

Medium match SPINOCEREBELLAR ATAXIA TYPE 36


Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.

SPINOCEREBELLAR ATAXIA TYPE 36 Is also known as sca36|asidan

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 36

Medium match AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2


AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2 Is also known as alsj|als, juvenile

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MESH MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2

Medium match FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE


Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.

FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE Is also known as frontotemporal dementia and/or amyotrophic lateral sclerosis|frontotemporal dementia with amyotrophic lateral sclerosis|ftd-mnd|ftdmnd|ftd-als|amyotrophic lateral sclerosis and/or frontotemporal dementia|alsftd|frontotemporal dementia and/or motor neuron

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Ptosis
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE

Medium match BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1


Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis (ALS ). The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable (summary by Green et al., 2010). Genetic Heterogeneity of Brown-Vialetto-Van Laere SyndromeSee also BVVLS2 (OMIM ), caused by mutation in the SLC52A2 gene (OMIM ) on chromosome 8q.

BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1 Is also known as bulbar palsy, progressive, with sensorineural deafness|pontobulbar palsy with deafness

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1

Medium match GIANT AXONAL NEUROPATHY


Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.

GIANT AXONAL NEUROPATHY Is also known as gan

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GIANT AXONAL NEUROPATHY

Medium match SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1


Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Top 5 symptoms//phenotypes associated to Ataxia and Amyotrophic lateral sclerosis

Symptoms // Phenotype % cases
Babinski sign Common - Between 50% and 80% cases
Dysphagia Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Fasciculations Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Amyotrophic lateral sclerosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


Proximal muscle weakness Dementia Difficulty walking Frontotemporal dementia Bulbar palsy Spasticity Peripheral neuropathy Ptosis Neuronal loss in central nervous system Parkinsonism Rigidity Hyperreflexia Neurodegeneration Tremor Gait disturbance Hyporeflexia Areflexia Tongue atrophy Paralysis Personality changes Apathy Nystagmus Abnormal lower motor neuron morphology Abnormal cerebellum morphology Gliosis Hearing impairment Disinhibition Cerebral cortical atrophy Limb muscle weakness Progressive muscle weakness Bulbar signs Cognitive impairment Global brain atrophy Intention tremor Perseveration Cerebral atrophy Myopathy

Rare Symptoms - Less than 30% cases


Respiratory insufficiency Emotional lability Pseudobulbar signs Supranuclear gaze palsy Axonal loss Sensory neuropathy Chorea Motor neuron atrophy Cerebellar atrophy Facial palsy Generalized hypotonia Distal muscle weakness Respiratory failure Hand muscle atrophy Scoliosis Muscular hypotonia Abnormal upper motor neuron morphology Tetraparesis Lower limb spasticity Distal amyotrophy Dystonia Global developmental delay Paraparesis Olivopontocerebellar atrophy Tongue fasciculations Hand tremor Sensorineural hearing impairment Clonus Spinal muscular atrophy Apraxia Alzheimer disease Impulsivity Akinesia Elevated serum creatine phosphokinase Mutism Distal sensory impairment Limb ataxia Clumsiness Memory impairment Neurofibrillary tangles Pes cavus Brain atrophy Myoclonus Behavioral abnormality Calf muscle hypertrophy Pes planus Ragged-red muscle fibers Sensory impairment Muscle cramps Agitation Hallucinations Bulimia Dyscalculia Abnormal pyramidal sign Seizures Short stature Motor delay Macrocephaly Abnormality of the skeletal system Talipes equinovarus Decreased LDL cholesterol concentration High forehead Hyperlipidemia Intellectual disability Spastic paraplegia Abnormality of the foot Genu valgum Paraplegia Unsteady gait Peripheral axonal neuropathy Joint hypermobility Falls Hyperlipoproteinemia Limb tremor Polyneuropathy Myopathic facies Laryngospasm Erectile abnormalities Exercise-induced muscle cramps Ophthalmoplegia External ophthalmoplegia Cranial nerve paralysis Stridor Oral-pharyngeal dysphagia Axonal degeneration Cranial nerve motor loss Ankle clonus Neck muscle weakness Hypoventilation Vocal cord paralysis Weak voice Diaphragmatic weakness Nocturnal hypoventilation Knee clonus Testicular atrophy Abnormality of the hair Aspiration Pneumonia Abnormal hand morphology Decreased fertility Curly eyelashes Abnormality of the pituitary gland Pili canaliculi Abnormality of the Achilles tendon Diffuse axonal swelling Pain Impotence Hyporeflexia of lower limbs Limb-girdle muscular dystrophy Myalgia Muscular dystrophy Infertility Facial asymmetry Type II diabetes mellitus Gynecomastia Dysphonia Red hair Morphological abnormality of the pyramidal tract Kinetic tremor Sensory axonal neuropathy Sensorimotor neuropathy Oligospermia Spastic paraparesis Distal lower limb amyotrophy CNS hypomyelination Abnormality of the hand Aspiration pneumonia Steppage gait Abnormality of the mouth Areflexia of lower limbs Overweight Brisk reflexes Decreased number of peripheral myelinated nerve fibers Curly hair Abnormality of lipid metabolism Muscle fibrillation Facial diplegia Motor axonal neuropathy Woolly hair Pallor Hypersexuality Recurrent respiratory infections Vertigo Semantic dementia Dysphasia Aphasia Hypertonia Gait ataxia Attention deficit hyperactivity disorder Abnormality of eye movement Dysmetria Migraine Pulmonary edema Diplopia Truncal ataxia Progressive hearing impairment Incoordination Dysdiadochokinesis Blurred vision Bowel incontinence Cerebellar vermis atrophy Impaired smooth pursuit Primitive reflex Polyphagia Head tremor Dilation of lateral ventricles Limb apraxia Diminished motivation Repetitive compulsive behavior Hyperorality Inappropriate behavior Fatigue Dysgraphia Abnormality of mitochondrial metabolism Astrocytosis Frontal lobe dementia Insomnia Dyslexia Senile plaques Edema Congestive heart failure Aggressive behavior Lewy bodies Stereotypy Respiratory insufficiency due to muscle weakness Restlessness Slow saccadic eye movements Language impairment Kyphosis Bipolar affective disorder Mitochondrial myopathy Progressive cerebellar ataxia Bradykinesia Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Psychosis Hammertoe Generalized amyotrophy Delusions Spasticity of pharyngeal muscles Visual hallucinations Focal dystonia Degeneration of the lateral corticospinal tracts Progressive language deterioration Abnormal mitochondrial morphology Extrapyramidal dyskinesia Neuronal loss in the cerebral cortex Weakness due to upper motor neuron dysfunction Respiratory distress Depressivity Spasticity of facial muscles Loss of Purkinje cells in the cerebellar vermis Progressive spasticity Limb myoclonus Microcephaly Flexion contracture Hemiparesis Spastic gait Spastic tetraparesis Drooling Toe walking Opisthotonus Generalized dystonia Pseudobulbar behavioral symptoms Mild microcephaly Spastic dysarthria Upper limb spasticity Pseudobulbar paralysis Anarthria EMG: chronic denervation signs Tip-toe gait Difficulty in tongue movements Retrocollis Proximal spinal muscular atrophy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Short foot, related diseases and genetic alterations Fever and Spastic paraplegia, related diseases and genetic alterations High palate and Nephrotic syndrome, related diseases and genetic alterations Cleft palate and Triangular face, related diseases and genetic alterations Nystagmus and Dementia, related diseases and genetic alterations Abnormal facial shape and Conductive hearing impairment, related diseases and genetic alterations

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