Ataxia, and Proximal muscle weakness

Diseases related with Ataxia and Proximal muscle weakness

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


Top matches:

Low match NONAKA MYOPATHY; NM


NONAKA MYOPATHY; NM Is also known as myopathy, distal, with or without rimmed vacuoles|gne myopathy|inclusion body myopathy 2, autosomal recessive, formerly|ibm2, formerly|hibm|nonaka distal myopathy|inclusion body myopathy, quadriceps-sparing|qsm|inclusion body myopathy, hereditary, autosom

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Gait disturbance
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM MENDELIAN

More info about NONAKA MYOPATHY; NM

Low match CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG


CMTDIG is an autosomal dominant neurologic disorder with a highly variable phenotype. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. More severely affected individuals may have pes cavus and claw hands and become wheelchair-bound, whereas other affected individuals have later onset with a milder disease course. Electrophysiologic studies tend to show median motor nerve conduction velocities (NCV) in the 'intermediate' range, between 25 and 45 m/s (summary by Berciano et al., 2017).In a review of intermediate CMT, Berciano et al. (2017) noted that advanced axonal degeneration may induce secondary demyelinating changes resulting in decreased NCV and attenuated compound muscle action potential (CMAP) in median nerve conduction studies. They thus suggested that testing the upper arm, axilla to elbow, may provide more accurate assessment of NCV and CMAP and reveal an intermediate phenotype (review by Berciano et al., 2017).For a discussion of genetic heterogeneity of CMTDI, see {606482}.

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG

Low 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:

Low match OPTIC ATROPHY 1; OPA1


Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density (Votruba et al., 1998).Some patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see {125250}. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).Yu-Wai-Man et al. (2009) provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON ), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders. Genetic Heterogeneity of Optic AtrophyOptic atrophy-2 (OPA2 ) maps to chromosome Xp11.4-p11.21. OPA3 (OMIM ) is caused by mutation in the OPA3 gene (OMIM ) on chromosome 19q13. OPA4 (OMIM ) maps to chromosome 18q12.2-q12.3. OPA5 (OMIM ) is caused by mutation in the DNM1L gene (OMIM ) on chromosome 12p11. OPA6 (OMIM ) maps to chromosome 8q21-q22. OPA7 (OMIM ) is caused by mutation in the TMEM126A gene (OMIM ) on chromosome 11q14. OPA8 (OMIM ) maps to chromosome 16q21-q22. OPA9 (OMIM ) is caused by mutation in the ACO2 gene (OMIM ) on chromosome 22q13; OPA10 (OMIM ) is caused by mutation in the RTN4IP1 gene (OMIM ) on chromosome 6q21; and OPA11 (OMIM ) is caused by mutation in the YME1L1 gene (OMIM ) on chromosome 10p12.

OPTIC ATROPHY 1; OPA1 Is also known as kjer-type optic atrophy|optic atrophy, kjer type|oak|optic atrophy, juvenile

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY 1; OPA1

Low match AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY


This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY Is also known as arca2|autosomal recessive cerebellar ataxia type 2|spinocerebellar ataxia, autosomal recessive 9|scar9|autosomal recessive ataxia due to coenzyme q10 deficiency|autosomal recessive spinocerebellar ataxia type 9

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

Low match MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME


Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.

MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME Is also known as mitochondrial myopathy-lactic acidosis-hearing loss syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME

Low match INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME


Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME

Low match PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS


Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

Low match MUSCULAR DYSTROPHY, SELCEN TYPE


Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Abnormality of the skeletal system


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUSCULAR DYSTROPHY, SELCEN TYPE

Low 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

Top 5 symptoms//phenotypes associated to Ataxia and Proximal muscle weakness

Symptoms // Phenotype % cases
Myopathy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Hyporeflexia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Proximal muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Dystonia Elevated serum creatine phosphokinase Tremor Sensorineural hearing impairment Progressive cerebellar ataxia Limb muscle weakness Pes cavus Babinski sign Skeletal muscle atrophy Seizures Strabismus Ptosis Global developmental delay Generalized hypotonia Distal muscle weakness Difficulty walking Chorea

Rare Symptoms - Less than 30% cases


Optic atrophy Dementia Rigidity Parkinsonism Ragged-red muscle fibers Abnormality of mitochondrial metabolism Spasticity Bulbar palsy Frontotemporal dementia EMG: myopathic abnormalities Hyperreflexia Neurodegeneration Restrictive ventilatory defect Ophthalmoplegia Fatigue EMG abnormality Increased serum lactate Lactic acidosis Gait ataxia Myoclonus Muscular dystrophy Generalized amyotrophy Intellectual disability Gait disturbance Dysphagia Amyotrophic lateral sclerosis Cognitive impairment Sensory impairment Motor delay Cerebral atrophy Cerebellar atrophy Areflexia Cardiomyopathy Scoliosis Lower limb muscle weakness Distal sensory impairment Limb-girdle muscular dystrophy Polyneuropathy Alzheimer disease Abnormality of extrapyramidal motor function Axonal degeneration Steppage gait Gowers sign Toe walking Progressive proximal muscle weakness Insulin-resistant diabetes mellitus Knee flexion contracture Centrally nucleated skeletal muscle fibers Mildly elevated creatine phosphokinase Abnormal lung morphology Nasal speech Scapular winging Easy fatigability Specific learning disability Microcephaly Resting tremor Peripheral axonal neuropathy Mitral regurgitation Paralysis Orofacial dyskinesia Central core regions in muscle fibers Difficulty running Involuntary movements Abnormal posturing Abnormal basal ganglia MRI signal intensity Progressive extrapyramidal movement disorder Progressive extrapyramidal muscular rigidity Flexion contracture Facial palsy Stereotypy Increased variability in muscle fiber diameter Abnormality of the skeletal system Respiratory insufficiency Hypertrophic cardiomyopathy Exercise-induced muscle fatigue Dyskinesia Apraxia Impaired vibratory sensation Focal dystonia Impulsivity Emotional lability Global brain atrophy Neurofibrillary tangles Bipolar affective disorder Delusions Abnormal lower motor neuron morphology Visual hallucinations Supranuclear gaze palsy Olivopontocerebellar atrophy Apathy Disinhibition Degeneration of the lateral corticospinal tracts Perseveration Abnormal upper motor neuron morphology Dyscalculia Motor neuron atrophy Abnormal mitochondrial morphology Extrapyramidal dyskinesia Neuronal loss in the cerebral cortex Personality changes Mutism Spinal rigidity Depressivity Axonal loss Thoracic scoliosis Demyelinating peripheral neuropathy Restrictive cardiomyopathy Myofibrillar myopathy Skeletal myopathy Muscle fiber splitting Diaphragmatic paralysis Behavioral abnormality Respiratory failure Paraparesis Gliosis Brain atrophy Memory impairment Neuronal loss in central nervous system Bradykinesia Bilateral sensorineural hearing impairment Psychosis Tetraparesis Hallucinations Fasciculations Right ventricular dilatation Neurodevelopmental delay Hyperkinesis Spastic paraplegia Visual impairment Blindness Visual loss Glaucoma Reduced visual acuity Abnormality of the eye Pallor Paraplegia Pseudobulbar signs Muscle cramps Progressive visual loss Optic disc pallor Horizontal nystagmus External ophthalmoplegia Abnormality of color vision Visual field defect Scotoma Frontal lobe dementia Akinesia Central scotoma Nystagmus Distal amyotrophy Rimmed vacuoles Myositis Limb-girdle muscle weakness Muscle fiber atrophy Morphological abnormality of the central nervous system Deposits immunoreactive to beta-amyloid protein Abnormality of the foot Cerebral cortical atrophy Unsteady gait Inability to walk Postural instability Waddling gait Peripheral demyelination Split hand Clumsiness Sensorimotor neuropathy Optic neuropathy Severe vision loss Infantile muscular hypotonia Mitochondrial myopathy Acidosis Postnatal growth retardation Dysmetria Metabolic acidosis Focal-onset seizure Hemiparesis Focal impaired awareness seizure Episodic vomiting Talipes cavus equinovarus Hyperalaninemia Increased serum pyruvate Vaginal fistula Moderate sensorineural hearing impairment Cataract Myopia Myalgia Truncal ataxia Focal T2 hypointense basal ganglia lesion Epilepsia partialis continua Progressive external ophthalmoplegia Intellectual disability, moderate Dyschromatopsia Leber optic atrophy Red-green dyschromatopsia Tritanomaly Centrocecal scotoma Temporal optic disc pallor Abnormal amplitude of pattern reversal visual evoked potentials Muscular hypotonia of the trunk Developmental regression Increased intramyocellular lipid droplets Abnormal pyramidal sign Stroke Gynecomastia Exercise intolerance Brisk reflexes Central hypotonia Increased CSF lactate Generalized tonic seizures Weakness due to upper motor neuron dysfunction



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