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:
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
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
Too many results?
We can help you with your rare disease diagnosis.
Learn more
Other less relevant matches:
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
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
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
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
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
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
|
Accelerate your rare disease diagnosis with us
Learn more
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
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
Ventricular septal defect and Everted lower lip vermilion, related diseases and genetic alterations
Macrocephaly and Hyperactivity, related diseases and genetic alterations
Cardiomyopathy and Hypopigmentation of the skin, related diseases and genetic alterations
Cataract and Hepatic steatosis, related diseases and genetic alterations
Sensorineural hearing impairment and Atrial fibrillation, related diseases and genetic alterations
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
Learn more