Cardiomyopathy, and Amyotrophic lateral sclerosis

Diseases related with Cardiomyopathy and Amyotrophic lateral sclerosis

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Amyotrophic lateral sclerosis that can help you solving undiagnosed cases.


Top matches:

Medium match ADULT POLYGLUCOSAN BODY DISEASE


Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.

ADULT POLYGLUCOSAN BODY DISEASE Is also known as apbd|polyglucosan body disease, adult form

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Muscle weakness
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ADULT POLYGLUCOSAN BODY DISEASE

Medium 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 AMYOTROPHIC LATERAL SCLEROSIS 23; ALS23


Related symptoms:

  • Dementia
  • Pallor
  • Neuronal loss in central nervous system
  • Amyotrophic lateral sclerosis


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 23; ALS23

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Other less relevant matches:

Low match AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS22


Related symptoms:

  • Dementia
  • Mental deterioration
  • Amyotrophic lateral sclerosis
  • Frontotemporal dementia
  • Abnormal lower motor neuron morphology


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS22

Low match AMYOTROPHIC LATERAL SCLEROSIS 20; ALS20


Related symptoms:

  • Muscular dystrophy
  • Elevated alkaline phosphatase
  • Amyotrophic lateral sclerosis
  • Rimmed vacuoles
  • Muscle fiber inclusion bodies


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 20; ALS20

Low match AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11


Related symptoms:

  • Skeletal muscle atrophy
  • Amyotrophic lateral sclerosis
  • Bulbar signs
  • Upper motor neuron dysfunction


SOURCES: OMIM MESH MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11

Low match AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM-DEMENTIA COMPLEX


Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam is a neurodegenerative disorder with unusually high incidence among the Chamorro people of Guam. Both ALS and parkinsonism-dementia are chronic, progressive, and uniformly fatal disorders in this population. Both diseases are known to occur in the same kindred, the same sibship, and even the same individual.

AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM-DEMENTIA COMPLEX Is also known as guam disease|als-pdc|parkinsonism-dementia-als complex|pdals|amyotrophic lateral sclerosis-parkinsonism-dementia of guam syndrome|amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam|lytico-bodig disease

Related symptoms:

  • Muscle weakness
  • Dementia
  • Paralysis
  • Muscle cramps
  • Parkinsonism


SOURCES: OMIM ORPHANET MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM-DEMENTIA COMPLEX

Low match AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE; ALS16


Related symptoms:

  • Muscle weakness
  • Spasticity
  • Hyperreflexia
  • Paralysis
  • Lower limb spasticity


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE; ALS16

Low match AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9


Related symptoms:

  • Spasticity
  • Dementia
  • Distal muscle weakness
  • Distal amyotrophy
  • Parkinsonism


SOURCES: OMIM MESH MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9

Low match AMYOTROPHIC LATERAL SCLEROSIS 19; ALS19


Related symptoms:

  • Cognitive impairment
  • Respiratory insufficiency due to muscle weakness
  • Amyotrophic lateral sclerosis
  • Loss of ability to walk


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 19; ALS19

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Amyotrophic lateral sclerosis

Symptoms // Phenotype % cases
Dementia Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Frontotemporal dementia Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Abnormal lower motor neuron morphology Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Amyotrophic lateral sclerosis. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Lower limb spasticity Elevated alkaline phosphatase Skeletal muscle atrophy Tetraparesis Abnormal upper motor neuron morphology Progressive muscle weakness Neuronal loss in central nervous system Upper motor neuron dysfunction Rimmed vacuoles Urinary bladder sphincter dysfunction Mental deterioration Intellectual disability Muscular dystrophy Parkinsonism Bulbar palsy Paralysis Ventriculomegaly Distal muscle weakness Gait disturbance Distal amyotrophy Cognitive impairment Cerebral cortical atrophy Pathologic fracture Abnormality of the vertebral column Difficulty climbing stairs Fasciculations Generalized amyotrophy Dysphasia Osteolysis Aphasia Alzheimer disease Sensory axonal neuropathy Increased variability in muscle fiber diameter Spinal muscular atrophy Language impairment Limb-girdle muscular dystrophy Back pain Progressive proximal muscle weakness Abnormality of pelvic girdle bone morphology Mutism EMG: myopathic abnormalities Scapular winging Increased susceptibility to fractures Abnormality of calvarial morphology EMG: neuropathic changes Semantic dementia Respiratory insufficiency due to muscle weakness Hyperreflexia Muscle cramps Bulbar signs Muscle fiber inclusion bodies Pallor Weakness of muscles of respiration Abnormal motor neuron morphology Ubiquitin-positive cerebral inclusion bodies Temporal cortical atrophy Pelvic girdle amyotrophy Abnormality of long bone morphology Scapuloperoneal weakness Motor axonal neuropathy Elevated alkaline phosphatase of bone origin Frontal cortical atrophy Pelvic girdle muscle atrophy Cranial nerve compression Calvarial hyperostosis Motor neuron atrophy Fatty replacement of skeletal muscle Dyscalculia EMG: chronic denervation signs Shoulder girdle muscle atrophy Hip pain Pelvic girdle muscle weakness Shoulder girdle muscle weakness Lumbar hyperlordosis Respiratory failure Waddling gait Peripheral axonal neuropathy EMG abnormality Foot dorsiflexor weakness Skin ulcer Decreased liver function Hemiparesis Abnormality of extrapyramidal motor function Bradykinesia Hypotension Sensory impairment Limitation of joint mobility Urinary incontinence Polyneuropathy Distal sensory impairment Paresthesia Impotence Paraplegia Abnormality of the cerebral white matter Spastic paraplegia Abnormal pyramidal sign Difficulty walking Gait ataxia Babinski sign Abnormality of metabolism/homeostasis Behavioral abnormality Hypertonia Cerebellar atrophy Hypoplasia of the corpus callosum Peripheral neuropathy Reduced tendon reflexes Urinary urgency Brain atrophy Cervical spinal cord atrophy Hepatic steatosis Limb muscle weakness Hyperlordosis Facial palsy Proximal muscle weakness Ataxia Elevated serum creatine phosphokinase Dilatation Dystonia Congestive heart failure Myopathy Cataract Short stature Lafora bodies Orthostatic hypotension Decreased/absent ankle reflexes Abnormality of central motor function Decreased urine output Erectile abnormalities Progressive spastic paraparesis Psychomotor deterioration Motor polyneuropathy CNS demyelination Neurogenic bladder Corpus callosum atrophy Hypomimic face Slow saccadic eye movements Abnormality of the periventricular white matter Loss of ability to walk



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