Dysarthria, and Spinal muscular atrophy

Diseases related with Dysarthria and Spinal muscular atrophy

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

Top matches:

PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy (summary by Sferra et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY-SPASTIC ATAXIA-DISTAL SPINAL MUSCULAR ATROPHY SYNDROME

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

Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (OMIM ), SCA2, and SCA3, or Machado-Joseph disease (OMIM ). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 2; SCA2 Is also known as wadia-swami syndrome|spinocerebellar ataxia, cuban type|olivopontocerebellar atrophy, holguin type|spinocerebellar degeneration with slow eye movements|olivopontocerebellar atrophy ii|spinocerebellar atrophy ii|cerebellar degeneration with slow eye moveme

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 2; SCA2

Other less relevant matches:

Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease.Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008).

MACHADO-JOSEPH DISEASE; MJD Is also known as spinocerebellar ataxia 3|spinocerebellar atrophy iii|spinopontine atrophy|azorean neurologic disease|nigrospinodentatal degeneration|sca3

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MACHADO-JOSEPH DISEASE; MJD

Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.

TAY-SACHS DISEASE; TSD Is also known as b variant gm2-gangliosidosis|gm2-gangliosidosis, type i|hexosaminidase a deficiency|hexa deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about TAY-SACHS DISEASE; TSD

Pelizaeus-Merzbacher disease is an X-linked recessive hypomyelinative leukodystrophy (HLD1) in which myelin is not formed properly in the central nervous system. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay (Inoue, 2005). Genetic Heterogeneity of Hypomyelinating LeukodystrophyOther forms of hypomyelinating leukodystrophy include HLD2 (OMIM ), caused by mutation in the GJC2/GJA12 gene (OMIM ) on chromosome 1q41; HLD3 (OMIM ), caused by mutation in the AIMP1 gene (OMIM ) on chromosome 4q24; HLD4 (OMIM ), caused by mutation in the HSPD1 gene (OMIM ) on chromosome 2q33.1; and HLD5 (OMIM ), caused by mutation in the FAM126A gene (OMIM ) on chromosome 7p15; HLD6 (OMIM ), caused by mutation in the TUBB4A gene (OMIM ) on chromosome 19p13; HLD7 (OMIM ), caused by mutation in the POLR3A gene (OMIM ) on chromosome 10q22; HLD8 (OMIM ), caused by mutation in the POLR3B gene (OMIM ) on chromosome 12q23; HLD9 (OMIM ), caused by mutation in the RARS gene (OMIM ) on chromosome 5; HLD10 (OMIM ), caused by mutation in the PYCR2 gene (OMIM ) on chromosome 1q42; HLD11 (OMIM ), caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21; HLD12 (OMIM ), caused by mutation in the VPS11 gene (OMIM ) on chromosome 11q23; HLD13 (OMIM ) caused by mutation in the HIKESHI gene (OMIM ) on chromosome 11q14; HLD14 (OMIM ), caused by mutation in the UFM1 gene (OMIM ) on chromosome 13q13; HLD15 (OMIM ), caused by mutation in the EPRS gene (OMIM ) on chromosome 1q41; HLD16 (OMIM ), caused by mutation in the TMEM106B gene (OMIM ) on chromosome 7p21; and HLD17 (OMIM ), caused by mutation in the AIMP2 gene (OMIM ) on chromosome 7p22.

PELIZAEUS-MERZBACHER DISEASE; PMD Is also known as leukodystrophy, hypomyelinating, 1|hld1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER DISEASE; PMD

Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome (see this term) that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.

MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM Is also known as mtdna depletion syndrome, myopathic form|mitochondrial dna depletion myopathy, tk2-related

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Muscle weakness
  • Muscular hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM

Complex IV (cytochrome c oxidase; {EC 1.9.3.1}) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See {123995} for discussion of some of the nuclear-encoded subunits.Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.

ISOLATED CYTOCHROME C OXIDASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex iv deficiency|cox deficiency|isolated cox deficiency|cytochrome c oxidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.

YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY Is also known as young adult-onset dhmn|autosomal recessive distal spinal muscular atrophy type 5|dsma5

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY

Top 5 symptoms//phenotypes associated to Dysarthria and Spinal muscular atrophy

Symptoms // Phenotype % cases
Skeletal muscle atrophy Very Common - Between 80% and 100% cases
Ataxia Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Spinal muscular atrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Optic atrophy

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Muscular hypotonia Sensory neuropathy Gait disturbance Dysphagia Limb muscle weakness Flexion contracture Abnormal cerebellum morphology Cerebellar atrophy Dystonia Myoclonus Global developmental delay Neurodegeneration Nystagmus Difficulty walking Dementia Ophthalmoplegia Intellectual disability Fasciculations Scoliosis Distal amyotrophy Choreoathetosis Poor head control Tetraplegia Muscle cramps Ptosis Progressive muscle weakness Developmental regression Spinocerebellar tract degeneration Spastic tetraplegia Rigidity Gait ataxia Irritability Amyotrophic lateral sclerosis Respiratory failure Cognitive impairment Hearing impairment Visual impairment Abnormality of eye movement Foot dorsiflexor weakness Progressive cerebellar ataxia External ophthalmoplegia Proximal muscle weakness Chorea Pneumonia Short stature Hyporeflexia Respiratory insufficiency Microcephaly Myopathy Truncal ataxia Limb ataxia Failure to thrive

Rare Symptoms - Less than 30% cases

Hypometric saccades Impaired horizontal smooth pursuit Respiratory insufficiency due to muscle weakness Downbeat nystagmus Supranuclear ophthalmoplegia Respiratory arrest Aminoaciduria Dysmetric saccades Neurological speech impairment Impaired vibratory sensation Olivopontocerebellar atrophy Mitochondrial myopathy Action tremor Urinary bladder sphincter dysfunction Resting tremor Gaze-evoked nystagmus Oculomotor apraxia Diplopia Broad-based gait Progressive neurologic deterioration Palatal myoclonus Hallucinations Depressivity Lactic acidosis Involuntary movements Muscle stiffness Hepatic failure Slurred speech Apathy Psychomotor deterioration Strabismus Bradykinesia Acidosis Anemia Cerebral palsy Abnormality of movement Hyperreflexia Kyphosis Clumsiness Generalized muscle weakness Babinski sign Polyneuropathy Diabetes mellitus Anxiety Abnormal pyramidal sign Leukemia Unsteady gait Confusion Recurrent respiratory infections Lower limb muscle weakness Progressive external ophthalmoplegia Absent Achilles reflex Torsion dystonia Distal muscle weakness Behavioral abnormality Pes cavus Paralysis Abnormality of extrapyramidal motor function Dilated fourth ventricle Pigmentary retinopathy Abnormality of the eye Muscle fibrillation Pain Areflexia Elevated serum creatine phosphokinase Dysphonia Progressive encephalopathy Gynecomastia Severe muscular hypotonia Motor delay Intention tremor Cerebral atrophy Rod-cone dystrophy Type II diabetes mellitus Neonatal hypotonia Aspiration Neuronal loss in central nervous system Encephalopathy Mental deterioration Muscular dystrophy Growth delay Parkinsonism Postural instability Peripheral axonal neuropathy Pallor Apnea Exercise intolerance Defective B cell differentiation Leukoencephalopathy Paresthesia IgE deficiency Interosseus muscle atrophy Hyperammonemia Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Poor suck Tachypnea Hemiplegia Renal tubular dysfunction Hypercalciuria Polydipsia Myotonia Progressive spinal muscular atrophy Polyuria Exertional dyspnea Glycosuria Decreased liver function Thoracolumbar scoliosis Renal tubular acidosis Weak cry Congenital hip dislocation Hepatic steatosis Hemiparesis Motor axonal neuropathy Feeding difficulties Abnormal facial shape Sensorineural hearing impairment Sensory impairment Steppage gait Depletion of mitochondrial DNA in muscle tissue Loss of ability to walk in early childhood Hepatomegaly Generalized aminoaciduria Weak voice Decreased activity of mitochondrial respiratory chain Peroneal muscle atrophy Abnormality of the basal ganglia Severe lactic acidosis Facial diplegia Hypertension Ventriculomegaly Status epilepticus Generalized tonic-clonic seizures Pulmonary arterial hypertension Distal sensory impairment Aciduria Increased serum lactate Coma Metabolic acidosis Hyperphosphaturia Hip dislocation Respiratory distress Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Proteinuria Kyphoscoliosis Dilatation Vomiting Cardiomyopathy Increased CSF lactate Proximal renal tubular acidosis Periventricular leukomalacia B-cell lymphoma Severe combined immunodeficiency Recurrent lower respiratory tract infections Chromosome breakage Recurrent bronchitis Renal neoplasm Recurrent pneumonia Abnormality of the testis Hepatocellular carcinoma Lymphoproliferative disorder Hypoplasia of the thymus Chronic lymphatic leukemia Cellular immunodeficiency Abnormality of the hair Abnormality of chromosome stability Acute lymphoblastic leukemia Reduced tendon reflexes Abnormal vertebral morphology IgA deficiency Multiple cafe-au-lait spots Telangiectasia of the skin Abnormality of the immune system Myeloid leukemia Prematurely aged appearance Aplasia/Hypoplasia of the skin Premature graying of hair Breast carcinoma Combined immunodeficiency Glucose intolerance Athetosis Generalized amyotrophy Hodgkin lymphoma Polycystic ovaries Hypopigmentation of hair Lymphopenia Sinusitis Non-Hodgkin lymphoma Increased hepatocellular lipid droplets Decreased proportion of CD4-positive T cells Chronic hepatitis Female hypogonadism Increased sensitivity to ionizing radiation Neoplasm Aplasia/Hypoplasia of the thymus Spastic hemiparesis Elevated alpha-fetoprotein Increased intramyocellular lipid droplets Cytochrome C oxidase-negative muscle fibers Renal Fanconi syndrome Hepatic encephalopathy Microvesicular hepatic steatosis Mucosal telangiectasiae Thoracolumbar kyphosis Immunodeficiency Recurrent infections Cafe-au-lait spot Hepatitis Bronchiectasis Telangiectasia Conjunctival telangiectasia Pancytopenia Chronic myelogenous leukemia Apraxia Decreased antibody level in blood Elevated hepatic transaminase Lymphoma Delayed puberty Neoplasm of the breast Abnormal spermatogenesis Abnormality of the liver Respiratory tract infection Carcinoma Ankle contracture Exaggerated startle response Decreased muscle mass Sleep disturbance Slow saccadic eye movements Poor coordination Postural tremor Dysdiadochokinesis Drooling Nevus Dyskinesia Hypopnea Retinal degeneration Dysmetria Retinopathy Proximal spinal muscular atrophy Laryngospasm Erectile abnormalities Pontocerebellar atrophy Central nervous system degeneration Motor neuron atrophy Delusions Restless legs Chronic pain Low back pain Myokymia Tongue fasciculations Spastic dysarthria Atrophy/Degeneration affecting the brainstem Proptosis Decreased number of peripheral myelinated nerve fibers Akinesia Ophthalmoparesis Back pain Abnormal autonomic nervous system physiology Gliosis Exercise-induced muscle cramps Limb tremor Facial-lingual fasciculations Anarthria Facial asymmetry Infertility Myalgia Iron accumulation in substantia nigra EMG: chronic denervation signs Difficulty standing Progressive spastic paraparesis Limb-girdle muscular dystrophy Spastic ataxia Hypoparathyroidism Mutism Spastic tetraparesis Focal-onset seizure Hypoplasia of the corpus callosum Hyperlipidemia Calf muscle hypertrophy Tongue atrophy Bulbar signs Decreased LDL cholesterol concentration Hyperlipoproteinemia Testicular atrophy Kinetic tremor Oligospermia Distal lower limb amyotrophy Aspiration pneumonia Impotence Hand tremor Abnormality of the mouth Overweight Abnormality of lipid metabolism Axonal loss Bulbar palsy Decreased fertility Delirium Abnormal electrooculogram Toe walking Abnormality of visual evoked potentials Cerebral dysmyelination Progressive spastic quadriplegia Scanning speech Rotary nystagmus Arteriovenous malformation Head tremor Progressive spasticity Head titubation Bowel incontinence Spastic diplegia Stridor Failure to thrive in infancy Cachexia Abnormality of the urinary system Macrogyria Sudanophilic leukodystrophy Increased body weight Scapular winging Gowers sign Nasal speech Delayed gross motor development EMG: myopathic abnormalities Infantile muscular hypotonia Ragged-red muscle fibers Intellectual disability, progressive Congenital laryngeal stridor Lumbar hyperlordosis Waddling gait Hyperlordosis Facial palsy Fatigue Reduction of oligodendroglia Diffuse cerebral sclerosis CNS hypomyelination Leukodystrophy Blindness Hypercholesterolemia Oral-pharyngeal dysphagia Personality changes Incoordination Hyperkinesis Melanoma Progressive hearing impairment EMG abnormality Proximal amyotrophy Psychosis Memory impairment Urinary incontinence Falls Visual loss Hypertonia Loss of speech Paranoia Lower limb spasticity Delayed speech and language development Premature birth Paraplegia Spastic paraplegia Joint stiffness Cerebral cortical atrophy Intellectual disability, severe Zebra bodies Mood changes GM2-ganglioside accumulation Internuclear ophthalmoplegia Therapeutic abortion Cherry red spot of the macula Abnormal anterior horn cell morphology Psychotic episodes Decerebrate rigidity Progressive distal muscle weakness


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