Ataxia, and Myopathy

Diseases related with Ataxia and Myopathy

In the following list you will find some of the most common rare diseases related to Ataxia and Myopathy 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 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

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5


PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5 Is also known as progressive external ophthalmoplegia, autosomal dominant 5

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Ptosis
  • Dysarthria
  • Fatigue


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5

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Other less relevant matches:

Low match USHER SYNDROME, TYPE IIIB; USH3B


Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).For a discussion of genetic heterogeneity of type III Usher syndrome, see USH3A (OMIM ).

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Visual impairment
  • Myopathy


SOURCES: OMIM MENDELIAN

More info about USHER SYNDROME, TYPE IIIB; USH3B

Low match FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.

FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION Is also known as cardiomyopathy, familial idiopathic|cardiomyopathy, idiopathic dilated|cardiomyopathy, dilated, with conduction defect 1|cdcd1|cardiomyopathy, congestive

Related symptoms:

  • Ataxia
  • Pain
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION

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

Low match CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES


Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. Classic CFEOM is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline. Involvement of the horizontal extraocular muscles is variable. If all affected members of a family have the classic phenotype with bilateral involvement, the disorder is referred to as 'CFEOM1' (Engle et al., 1997; Heidary et al., 2008).CFEOM2 (OMIM ), an autosomal recessive disorder caused by mutation in the ARIX gene (OMIM ) on chromosome 11q13, is characterized by bilateral ptosis with eyes fixed in an exotropic position.The CFEOM3 phenotype shows more variable clinical features: affected individuals may have unilateral eye involvement, may be able raise their eyes above midline, or may not have blepharoptosis. CFEOM3 is diagnosed in a family if even 1 member does not have classic findings of the disorder. CFEOM3 is a genetically heterogeneous disorder; CFEOM3A with or without extraocular involvement (OMIM ) is caused by mutation in the TUBB3 gene (OMIM ) on chromosome 16q24; CFEOM3B is caused by mutation in the KIF21A gene (OMIM ) on chromosome 12q12; and CFEOM3C (OMIM ) maps to chromosome 13q.CFEOM4 (OMIM ), also known as Tukel syndrome, maps to chromosome 21q.CFEOM5 (OMIM ) is caused by mutation in the COL25A1 gene (OMIM ) on chromosome 4q25.See also NOMENCLATURE below.

CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES Is also known as feom|feom1 locus|ophthalmoplegia, congenital|blepharoptosis with absent eye movements

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Strabismus
  • Ptosis
  • Optic atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES

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 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

Top 5 symptoms//phenotypes associated to Ataxia and Myopathy

Symptoms // Phenotype % cases
Muscle weakness Uncommon - Between 30% and 50% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hyporeflexia Ragged-red muscle fibers Ophthalmoplegia Babinski sign Areflexia Skeletal muscle atrophy Ptosis Gait disturbance Elevated serum creatine phosphokinase Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases


Strabismus Bilateral ptosis Dysphagia Cerebellar atrophy Depressivity Glaucoma Gait ataxia Peripheral neuropathy External ophthalmoplegia Progressive external ophthalmoplegia Optic atrophy Nystagmus Progressive cerebellar ataxia Reduced visual acuity Gowers sign Spasticity Generalized hypotonia Abnormality of mitochondrial metabolism Optic disc pallor Horizontal nystagmus Pallor Visual impairment Frontotemporal dementia Mitochondrial myopathy Amyotrophic lateral sclerosis Pes cavus Dementia Distal muscle weakness Sensory impairment Muscle cramps Distal sensory impairment Blepharophimosis Pseudobulbar signs Frontal lobe dementia Intellectual disability EMG abnormality Hemiparesis Esotropia Astigmatism Bulbar palsy Pigmentary retinopathy Amblyopia Exotropia Diplopia Progressive gait ataxia Abnormal cranial nerve morphology Focal impaired awareness seizure Rigidity Akinesia Hyperalaninemia Peripheral demyelination Split hand Clumsiness Sensorimotor neuropathy Vaginal fistula Increased serum pyruvate Episodic vomiting Toe walking Steppage gait Axonal degeneration Progressive proximal muscle weakness Cerebral cortical atrophy Congenital fibrosis of extraocular muscles Parkinsonism Congenital ptosis Superior rectus atrophy Restrictive external ophthalmoplegia Red-green dyschromatopsia Central scotoma Lactic acidosis Severe vision loss Dyschromatopsia Dysmetria Leber optic atrophy Tritanomaly Metabolic acidosis Postnatal growth retardation Acidosis Dystonia Seizures Abnormal amplitude of pattern reversal visual evoked potentials Temporal optic disc pallor Optic neuropathy Scotoma Compensatory chin elevation Visual loss Levator palpebrae superioris atrophy Centrocecal scotoma Sensory exotropia Secondary esotropia Hyperreflexia Blindness Abnormality of the eye Increased serum lactate Spastic paraplegia Paraplegia Focal-onset seizure Neurodegeneration Progressive visual loss Abnormality of color vision Visual field defect Waddling gait Abnormal EKG Postural instability Photophobia Bulbar signs Anxiety Exercise intolerance Ophthalmoparesis Increased muscle fatiguability Multiple mitochondrial DNA deletions Rod-cone dystrophy Nyctalopia Hammertoe Psychosis Broad-based gait Hallucinations Truncal ataxia Progressive hearing impairment Delayed gross motor development Agitation Calf muscle hypertrophy Spinal muscular atrophy Visual hallucinations Limb-girdle muscle weakness Muscular dystrophy Distal amyotrophy EMG: myopathic abnormalities Limb-girdle muscular dystrophy Alzheimer disease Rimmed vacuoles Myositis Muscle fiber atrophy Fasciculations Morphological abnormality of the central nervous system Deposits immunoreactive to beta-amyloid protein Tremor Pes planus Difficulty walking Intention tremor Progressive muscle weakness Vestibular dysfunction Inappropriate laughter Polyneuropathy Reduced systolic function Thromboembolism Myocarditis Atrial flutter Sinus bradycardia Left ventricular noncompaction Left ventricular failure Skeletal myopathy Premature atrial contractions Abnormality of the thyroid gland Paroxysmal ventricular tachycardia Motor delay Limb muscle weakness Abnormality of the foot Lower limb muscle weakness Unsteady gait Inability to walk Amyloidosis Pericardial effusion Pain Chest pain Ventriculomegaly Cardiomyopathy Congestive heart failure Dilatation Arrhythmia Dilated cardiomyopathy Sudden cardiac death Cardiomegaly Bundle branch block Ventricular hypertrophy Atrial fibrillation Bradycardia Ventricular arrhythmia Atrioventricular block Ventricular fibrillation Increased variability in muscle fiber diameter Moderate sensorineural hearing impairment



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