Dysarthria, and Myalgia

Diseases related with Dysarthria and Myalgia

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

Top matches:

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

Tubular aggregates in muscle, first described by Engel (1964), are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They are a nonspecific pathologic finding that may occur in a variety of circumstances, including alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness, and inherited myopathies. Tubular aggregates are derived from the sarcoplasmic reticulum (Salviati et al., 1985) and are believed to represent an adaptive mechanism aimed at regulating an increased intracellular level of calcium in order to prevent the muscle fibers from hypercontraction and necrosis (Martin et al., 1997; Muller et al., 2001). Genetic Heterogeneity of Tubular Aggregate MyopathySee also TAM2 (OMIM ), caused by mutation in the ORAI1 gene (OMIM ) on chromosome 12q24.

MYOPATHY, TUBULAR AGGREGATE, 1; TAM1 Is also known as tubular aggregate myopathy|myopathy, tubular aggregate|tam

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • Dysarthria
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, TUBULAR AGGREGATE, 1; TAM1

Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.

DISTAL MYOTILINOPATHY Is also known as muscular dystrophy, limb-girdle, type 1, formerly|lgmd1, formerly|lgmd1a, formerly|myopathy, myofibrillar, myotilin-related|muscular dystrophy, limb-girdle, type 1a, formerly|myotilinopathy

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DISTAL MYOTILINOPATHY

Other less relevant matches:

Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles) combined with vocal or swallowing dysfunction and frequent respiratory muscle involvement in later stages. Normal to mildly elevated creatine kinase (CK) serum levels and rimmed-vacuolated dystrophic muscle fiber changes are associated laboratory and pathologic findings.

VOCAL CORD AND PHARYNGEAL DISTAL MYOPATHY Is also known as mpd2, formerly|myopathy, distal, 2, formerly|vocal cord and pharyngeal dysfunction with distal myopathy, formerly|matr3-related distal myopathy|distal myopathy with vocal cord weakness|vcpdm, formerly|vcpdm

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about VOCAL CORD AND PHARYNGEAL DISTAL MYOPATHY

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

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

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 SNEDDON SYNDROME

Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SNEDDON SYNDROME

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

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME Is also known as fxtas syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Myalgia

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Myopathy Common - Between 50% and 80% cases
Proximal muscle weakness Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Dysphagia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Limb muscle weakness Ataxia Pain Peripheral neuropathy Skeletal muscle atrophy Respiratory insufficiency Tremor Hyporeflexia Abnormal cerebellum morphology Progressive muscle weakness Intellectual disability Seizures Difficulty walking Facial palsy Intention tremor Muscle cramps Dementia Motor delay Fatigue Cerebellar atrophy Hyperreflexia Gait disturbance Postural instability Cognitive impairment

Rare Symptoms - Less than 30% cases

Distal sensory impairment Aspiration Fasciculations Memory impairment Amyotrophic lateral sclerosis Bulbar palsy Tongue atrophy Saccadic smooth pursuit Hemiplegia Generalized hypotonia Muscular hypotonia Global developmental delay Type II diabetes mellitus Sensory neuropathy Rigidity Depressivity Kinetic tremor Generalized muscle weakness Hypertension Headache Mental deterioration Progressive cerebellar ataxia Nystagmus Stroke Impotence Horizontal nystagmus Vertigo Migraine Peripheral arterial stenosis Limb-girdle muscular dystrophy Bulbar signs Ophthalmoplegia Proximal amyotrophy Exercise intolerance Unsteady gait Centrally nucleated skeletal muscle fibers Lower limb muscle weakness External ophthalmoplegia Ophthalmoparesis Achilles tendon contracture Babinski sign Areflexia Exercise-induced myalgia Pneumonia Ptosis Flexion contracture Muscle stiffness Distal muscle weakness Muscular dystrophy Hyporeflexia of lower limbs Abnormal nerve conduction velocity EEG abnormality Encephalopathy Impaired distal vibration sensation Abnormality of the thyroid gland Apnea Nausea and vomiting Vomiting Paresthesia Nausea Abnormality of brainstem morphology Focal-onset seizure Pollakisuria Epileptic encephalopathy Diplopia Sleep apnea Dystonia Scoliosis Hypoplasia of the corpus callosum Thromboembolic stroke Thrombocytosis Transient ischemic attack Acrocyanosis Arteriovenous malformation Facial paralysis Cerebral ischemia Hemianopia Subcortical dementia Arterial stenosis Amaurosis fugax Ventriculomegaly Vascular skin abnormality Antiphospholipid antibody positivity Inertia Lupus anticoagulant Retrocollis Obsessive-compulsive trait Poor fine motor coordination Diffuse cerebellar atrophy Fever Optic atrophy Tinnitus Loss of consciousness CNS hypomyelination Spastic paraparesis Parkinsonism Brain atrophy Visual field defect Urinary incontinence Urinary bladder sphincter dysfunction Hypotension Bradykinesia Limb ataxia Abnormal autonomic nervous system physiology Paraparesis Bipolar affective disorder Abnormality of movement Atrophy/Degeneration affecting the brainstem Dysdiadochokinesis Premature ovarian insufficiency Resting tremor Apathy Obsessive-compulsive behavior Postural tremor Mask-like facies Agitation Global brain atrophy Dysmetria Abnormality of the cerebral white matter Incoordination Malignant hyperthermia Focal impaired awareness seizure Dysesthesia Myotonia Bowel incontinence Disinhibition Vestibular dysfunction Gaze-evoked nystagmus Cerebellar vermis atrophy Rhabdomyolysis Astrocytosis Olivopontocerebellar atrophy Irritability Diffuse cerebral atrophy Episodic ataxia Action tremor Downbeat nystagmus Hearing impairment Cerebral cortical atrophy Gait ataxia Autism Hypothyroidism Anxiety Aggressive behavior Atrophic scars Distal lower limb amyotrophy Aphasia Rimmed vacuoles Spasticity Respiratory failure Sensory impairment Split hand Hoarse voice EMG abnormality Respiratory insufficiency due to muscle weakness Decreased nerve conduction velocity Nasal speech Mildly elevated creatine phosphokinase Shoulder girdle muscle weakness Progressive distal muscle weakness Abnormal lower motor neuron morphology Tongue fasciculations Axial muscle weakness Weak voice Abnormal upper motor neuron morphology Abnormality of the nasopharynx Vocal cord paresis Inflammatory myopathy Distal upper limb amyotrophy Ankle weakness Muscle fiber cytoplasmatic inclusion bodies Autophagic vacuoles Bowing of the vocal cords Easy fatigability Abnormal pyramidal sign Increased serum lactate Right bundle branch block Bundle branch block Progressive external ophthalmoplegia Progressive ophthalmoplegia Nyctalopia Falls Frequent falls Elbow flexion contracture Gowers sign Myofibrillar myopathy Increased variability in muscle fiber diameter Difficulty running Limb-girdle muscle weakness Areflexia of lower limbs Abnormal pupil morphology Type 2 muscle fiber atrophy Weakness of the intrinsic hand muscles Cardiomyopathy Distal amyotrophy Polyneuropathy Abnormality of the calf musculature Abnormality of the extraocular muscles Cutis marmorata Developmental regression Hyperlipoproteinemia Decreased LDL cholesterol concentration Limb tremor Motor neuron atrophy Exercise-induced muscle cramps Erectile abnormalities Laryngospasm Proximal spinal muscular atrophy Visual impairment Behavioral abnormality Paralysis Oligospermia Confusion Nephropathy Chorea Myocardial infarction Hemiparesis Vasculitis Systemic lupus erythematosus Intracranial hemorrhage Personality changes Heart murmur Testicular atrophy Aspiration pneumonia Imperfect vocal cord adduction Neurodegeneration Abnormality of musculature of pharynx Diabetes mellitus Type I diabetes mellitus Ragged-red muscle fibers EMG: myopathic abnormalities Mitochondrial myopathy Decreased activity of mitochondrial complex IV Weakness of orbicularis oculi muscle Infertility Facial asymmetry Gynecomastia Hand tremor Hyperlipidemia Dysphonia Spinal muscular atrophy Calf muscle hypertrophy Decreased fertility Muscle fibrillation Axonal loss Abnormality of lipid metabolism Overweight Abnormality of the mouth Impaired tandem gait


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