Cognitive impairment, and Spinal muscular atrophy

Diseases related with Cognitive impairment and Spinal muscular atrophy

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


Top matches:

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


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

Low match SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME


Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.

SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME Is also known as hereditary myoclonus-progressive distal muscular atrophy syndrome|jankovic-rivera syndrome|myoclonus, hereditary, with progressive distal muscular atrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match SPINOCEREBELLAR ATAXIA 2; SCA2


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

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B


Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by Wan et al., 2012). PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival (summary by Halevy et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B

Low match MACHADO-JOSEPH DISEASE; MJD


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

Low match TAY-SACHS DISEASE; TSD


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

Low match INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.

INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA Is also known as pagetoid neuroskeletal syndrome|msp1|pagetoid amyotrophic lateral sclerosis|multisystem proteinopathy 1|muscular dystrophy, limb-girdle, with paget disease of bone|limb-girdle muscular dystrophy with paget disease of bone|ibmpfd|lower motor neuron degener

Related symptoms:

  • Intellectual disability
  • Short stature
  • Muscle weakness
  • Cataract
  • Skeletal muscle atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA

Low match PELIZAEUS-MERZBACHER DISEASE; PMD


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

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM


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

Top 5 symptoms//phenotypes associated to Cognitive impairment and Spinal muscular atrophy

Symptoms // Phenotype % cases
Skeletal muscle atrophy Very Common - Between 80% and 100% cases
Dementia Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Fasciculations Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Progressive muscle weakness Gait disturbance Peripheral neuropathy Spasticity Flexion contracture Dysarthria Optic atrophy Dystonia Cerebellar atrophy Myoclonus Distal amyotrophy Intellectual disability Proximal muscle weakness Respiratory failure Respiratory insufficiency Babinski sign Hearing impairment Nystagmus Amyotrophic lateral sclerosis Abnormal cerebellum morphology Ophthalmoplegia Visual impairment Dysphagia Difficulty walking External ophthalmoplegia Rigidity Pes cavus Hyperreflexia Pneumonia Neuronal loss in central nervous system Hyperlordosis Facial palsy Cerebral atrophy Tongue fasciculations Muscular hypotonia Urinary bladder sphincter dysfunction Gaze-evoked nystagmus Poor head control Sensory neuropathy Generalized amyotrophy Neurodegeneration Hyporeflexia Scoliosis Areflexia Muscle cramps Limb muscle weakness Elevated serum creatine phosphokinase Myopathy Developmental regression

Rare Symptoms - Less than 30% cases


Oculomotor apraxia Truncal ataxia Paralysis Muscular dystrophy Cerebral cortical atrophy Irritability Choreoathetosis Diplopia Depressivity Involuntary movements Limb ataxia Broad-based gait Psychomotor deterioration Bradykinesia Muscle stiffness Chorea Progressive cerebellar ataxia Parkinsonism Short stature Postural instability Clumsiness Behavioral abnormality Impaired vibratory sensation Scapular winging Abnormal anterior horn cell morphology Motor neuron atrophy Abnormal pyramidal sign Brain atrophy Gliosis Paraplegia Confusion Hallucinations Back pain Progressive external ophthalmoplegia Torsion dystonia EMG: myopathic abnormalities Microcephaly Ptosis Lumbar hyperlordosis Waddling gait Palatal myoclonus Impaired horizontal smooth pursuit Downbeat nystagmus Supranuclear ophthalmoplegia Dysmetric saccades Hypometric saccades Dilated fourth ventricle Olivopontocerebellar atrophy Spinocerebellar tract degeneration Action tremor Spastic paraplegia Abnormality of extrapyramidal motor function Mitochondrial myopathy Spastic tetraplegia Recurrent respiratory infections Gowers sign Respiratory insufficiency due to muscle weakness Intention tremor Ragged-red muscle fibers EMG abnormality EMG: chronic denervation signs Degeneration of anterior horn cells Falls Frontotemporal dementia Unsteady gait Neurological speech impairment Growth delay Tetraplegia Foot dorsiflexor weakness Oral-pharyngeal dysphagia Mental deterioration Neonatal hypotonia Pallor Motor delay Abnormality of eye movement Rod-cone dystrophy Gait ataxia Dysmetria Mutism Abnormality of the eye EMG: neuropathic changes Elevated alkaline phosphatase Increased susceptibility to fractures Progressive proximal muscle weakness Abnormality of pelvic girdle bone morphology Decreased muscle mass Delayed gross motor development Limb-girdle muscular dystrophy Nasal speech Language impairment Rimmed vacuoles Increased variability in muscle fiber diameter Pathologic fracture Sensory axonal neuropathy Abnormality of the vertebral column Alzheimer disease Aphasia Dysphasia Difficulty climbing stairs Toe walking Ankle contracture Abnormality of visual evoked potentials Osteolysis Generalized aminoaciduria Mood changes Decerebrate rigidity Psychotic episodes Cherry red spot of the macula Therapeutic abortion Internuclear ophthalmoplegia GM2-ganglioside accumulation Zebra bodies Loss of ability to walk in early childhood Cataract Ventriculomegaly Cardiomyopathy Tetraparesis Weak voice Congestive heart failure Dilatation Decreased activity of mitochondrial respiratory chain Distal muscle weakness Respiratory arrest Motor axonal neuropathy Abnormality of the basal ganglia Hepatic steatosis Severe lactic acidosis Facial diplegia Infantile muscular hypotonia Fatty replacement of skeletal muscle Shoulder girdle muscle weakness Cerebral palsy Abnormality of movement Fatigue Reduction of oligodendroglia Premature birth Lower limb spasticity Leukodystrophy Diffuse cerebral sclerosis Congenital laryngeal stridor Sudanophilic leukodystrophy Head titubation Increased body weight Macrogyria CNS hypomyelination Kyphosis Abnormality of the urinary system Cachexia Cerebral dysmyelination Failure to thrive in infancy Progressive spastic quadriplegia Scanning speech Stridor Spastic diplegia Rotary nystagmus Bowel incontinence Arteriovenous malformation Progressive spasticity Joint stiffness Intellectual disability, severe Intellectual disability, progressive Frontal cortical atrophy Upper motor neuron dysfunction Aminoaciduria Pelvic girdle muscle weakness Hip pain Shoulder girdle muscle atrophy Gynecomastia Abnormality of calvarial morphology Dyscalculia Head tremor Calvarial hyperostosis Cranial nerve compression Pelvic girdle muscle atrophy Elevated alkaline phosphatase of bone origin Delayed speech and language development Scapuloperoneal weakness Semantic dementia Abnormality of long bone morphology Hepatic failure Pelvic girdle amyotrophy Temporal cortical atrophy Lactic acidosis Ubiquitin-positive cerebral inclusion bodies Acidosis Abnormal motor neuron morphology Weakness of muscles of respiration Failure to thrive Paranoia Hypoplasia of the pons Exaggerated startle response Resting tremor Apnea Retinopathy Retinal degeneration Dyskinesia Sleep disturbance Nevus Pigmentary retinopathy Progressive neurologic deterioration Drooling Dysdiadochokinesis Postural tremor Poor coordination Atonic seizures Slow saccadic eye movements Pontocerebellar atrophy Hypopnea Central nervous system degeneration Strabismus Abnormal facial shape Feeding difficulties Absent speech Cerebellar hypoplasia Muscular hypotonia of the trunk Hip dislocation Severe global developmental delay Progressive distal muscular atrophy Loss of consciousness Talipes Progressive encephalopathy Pes planus Distal sensory impairment Sensory impairment Hammertoe Calf muscle hypertrophy Bulbar signs Hypoplasia of the corpus callosum Encephalopathy Peripheral axonal neuropathy Focal-onset seizure Severe muscular hypotonia Spastic tetraparesis Hypoparathyroidism Absence seizures Spastic ataxia Progressive spastic paraparesis Anarthria Difficulty standing Iron accumulation in substantia nigra Sensorineural hearing impairment EEG abnormality Respiratory tract infection Generalized myoclonic seizures Generalized-onset seizure Bilateral sensorineural hearing impairment Frequent falls Abnormality of the foot Retinal dystrophy Proximal amyotrophy Urinary incontinence Low back pain Chronic pain Restless legs Delirium Facial-lingual fasciculations Abnormal electrooculogram Blindness Hypertonia Visual loss Lower limb muscle weakness Generalized muscle weakness Memory impairment Spastic dysarthria Psychosis Aspiration Hypercholesterolemia Progressive hearing impairment Melanoma Hyperkinesis Slurred speech Incoordination Apathy Personality changes Muscle fibrillation Loss of speech Myokymia Absent Achilles reflex Apraxia Atrophy of the spinal cord Progressive microcephaly Cone/cone-rod dystrophy Adducted thumb Congenital contracture Hypoplasia of the brainstem Brisk reflexes Global brain atrophy Weak cry Axonal loss Abnormal lower motor neuron morphology Cerebellar cyst Tongue atrophy Talipes valgus Delusions Retrocerebellar cyst Pain Diabetes mellitus Proptosis Anxiety Leukemia Polyneuropathy Abnormal autonomic nervous system physiology Ophthalmoparesis Akinesia Decreased number of peripheral myelinated nerve fibers Atrophy/Degeneration affecting the brainstem Depletion of mitochondrial DNA in muscle tissue



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Sparse scalp hair, related diseases and genetic alterations Optic atrophy and Pancytopenia, related diseases and genetic alterations Fever and Hypopigmentation of the skin, related diseases and genetic alterations Ptosis and Finger syndactyly, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more