Ataxia, and Myalgia

Diseases related with Ataxia and Myalgia

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


Top matches:

Medium match PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT


Women show menstrual cycle-dependent physiologic changes in relation to sex hormone levels. Because ovulation triggers a significant change in the hormonal milieu that is similar to local inflammation, a 0.5 to 1.0 degree Celsius increase in basal body temperature after ovulation is commonly associated with progesterone secretion and is believed to be triggered by the induction of several inflammatory cytokines. Rare menstrual cycle-dependent febrile episodes have been reported, some of which have shown a luteal-phase-dependent pattern (summary by Jiang et al., 2012).

Related symptoms:

  • Ataxia
  • Fever
  • Tremor
  • Myalgia
  • Lower limb muscle weakness


SOURCES: OMIM MENDELIAN

More info about PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2


Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 is a mitochondrial disorder characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency. Laboratory studies are consistent with a defect in mtDNA replication (summary by Reyes et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (OMIM ).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2 Is also known as progressive external ophthalmoplegia, autosomal recessive 2

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Pain
  • Ptosis
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2

Medium 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

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Other less relevant matches:

Medium match MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS


Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS Is also known as mtdna-related cardiomyopathy and hearing loss|trna-lys-related cardiomyopathy-hearing loss syndrome|maternally-inherited cardiomyopathy and deafness

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS

Medium match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Medium match MYOPATHY AND DIABETES MELLITUS


MYOPATHY AND DIABETES MELLITUS Is also known as mitochondrial myopathy, lipid type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYOPATHY AND DIABETES MELLITUS

Medium match ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY


Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.

ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY Is also known as adult-onset multiple mtdna deletion syndrome due to dguok deficiency|progressive external ophthalmoplegia, autosomal recessive 4

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY

Medium match ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY


Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.

ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY Is also known as adult-onset cpeo with mitochondrial myopathy

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY

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

Medium match EPISODIC ATAXIA, TYPE 2; EA2


Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007).For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (OMIM ).

EPISODIC ATAXIA, TYPE 2; EA2 Is also known as cerebellopathy, hereditary paroxysmal|ataxia, familial paroxysmal|capa|acetazolamide-responsive hereditary paroxysmal cerebellar ataxia|apca|cerebellar ataxia, paroxysmal, acetazolamide-responsive|ataxia, episodic, with nystagmus|episodic ataxia, nystagmu

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 2; EA2

Top 5 symptoms//phenotypes associated to Ataxia and Myalgia

Symptoms // Phenotype % cases
Myopathy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Exercise intolerance Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Elevated serum creatine phosphokinase Proximal muscle weakness Dysarthria Skeletal muscle atrophy Fatigue Pain Ragged-red muscle fibers Global developmental delay Tremor Progressive muscle weakness Increased serum lactate Abnormal cerebellum morphology Muscle cramps Difficulty walking Seizures Migraine Limb muscle weakness Hyporeflexia Dysphagia Gait disturbance Rhabdomyolysis Encephalopathy Progressive external ophthalmoplegia

Rare Symptoms - Less than 30% cases


Muscular dystrophy Ophthalmoparesis Muscular hypotonia Hemiplegia Fever Intention tremor Exercise-induced muscle cramps Generalized hypotonia Limb-girdle muscular dystrophy Motor delay Facial palsy Sensory neuropathy Type II diabetes mellitus Mitochondrial myopathy Dysphonia Fasciculations Sensorineural hearing impairment Mental deterioration Cognitive impairment Hyperreflexia Cataract Scoliosis Ophthalmoplegia External ophthalmoplegia Cerebellar atrophy Ptosis Postural instability Hyperlipidemia Spinal muscular atrophy Focal impaired awareness seizure Focal-onset seizure Calf muscle hypertrophy Amyotrophic lateral sclerosis Incoordination Impotence Decreased fertility Bulbar palsy Muscle fibrillation CNS hypomyelination Axonal loss Aspiration Myotonia Gynecomastia Neurodegeneration Facial asymmetry Loss of consciousness Vestibular dysfunction Infertility Gaze-evoked nystagmus Cerebellar vermis atrophy Pneumonia Areflexia Malignant hyperthermia Decreased nerve conduction velocity Episodic ataxia Saccadic smooth pursuit Peripheral demyelination Abnormality of lipid metabolism Abnormality of the mouth Overweight Apnea Dystonia Peripheral axonal neuropathy Headache Depressivity Sleep apnea EEG abnormality Rigidity Horizontal nystagmus Hypoplasia of the corpus callosum Nausea and vomiting Diplopia Paresthesia Vertigo Nausea Generalized muscle weakness Epileptic encephalopathy Vomiting Ventriculomegaly Progressive cerebellar ataxia Hyperlipoproteinemia Hand tremor Aspiration pneumonia Bulbar signs Distal lower limb amyotrophy Oligospermia Kinetic tremor Testicular atrophy Decreased LDL cholesterol concentration Optic atrophy Tongue atrophy Limb tremor Motor neuron atrophy Erectile abnormalities Laryngospasm Proximal spinal muscular atrophy Nystagmus Tinnitus Hepatic failure Reticulocytosis Distal muscle weakness Dyspnea Right ventricular dilatation Exercise-induced muscle fatigue Hypertension Intellectual disability, severe Congestive heart failure Abnormality of cardiovascular system morphology Hypertrophic cardiomyopathy Restrictive ventilatory defect Dilated cardiomyopathy Chest pain Febrile seizures EMG abnormality Slurred speech Multiple lipomas Progressive sensorineural hearing impairment Progressive proximal muscle weakness Hyperkinesis Lower limb pain Unsteady gait Lower limb muscle weakness Hepatitis Increased circulating cortisol level Recurrent spontaneous abortion Respiratory insufficiency Babinski sign Abnormal pyramidal sign Right bundle branch block Infantile muscular hypotonia Bundle branch block Progressive ophthalmoplegia Strabismus Myopia Cerebral atrophy Chorea Truncal ataxia Mild global developmental delay Increased serum pyruvate Cerebral cortical atrophy Exercise-induced myoglobinuria Acute kidney injury Progressive encephalopathy Myoglobinuria Decreased mean corpuscular volume Increased muscle fatiguability Recurrent myoglobinuria Diabetes mellitus Emotional lability Type I diabetes mellitus EMG: myopathic abnormalities Proximal amyotrophy Peripheral arterial stenosis Decreased activity of mitochondrial complex IV Weakness of orbicularis oculi muscle Hearing impairment Aphasia Spastic tetraparesis Increased adipose tissue Visual loss Short stature Anemia High palate Delayed speech and language development Brachydactyly Splenomegaly Renal insufficiency Rod-cone dystrophy Purpura Jaundice Hepatosplenomegaly Paralysis Retinal dystrophy Hemolytic anemia Tetraparesis Hyperbilirubinemia Downbeat nystagmus



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