Congestive heart failure, and Gait disturbance

Diseases related with Congestive heart failure and Gait disturbance

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Gait disturbance that can help you solving undiagnosed cases.


Top matches:

Low match ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1


ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1 Is also known as adsa

Related symptoms:

  • Ataxia
  • Dysarthria
  • Gait disturbance
  • Dysphagia
  • Congestive heart failure


SOURCES: OMIM MENDELIAN

More info about ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1

Low match FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA


Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.

FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA Is also known as fdfm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA

Low match CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION


Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D


Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D Is also known as duchenne-like autosomal recessive muscular dystrophy, type 2|muscular dystrophy, limb-girdle, type 2d|dmda2|alpha-sarcoglycanopathy|lgmd2d|adhalinopathy, primary|limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Respiratory insufficiency
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D

Low match HYPERKALEMIC PERIODIC PARALYSIS


Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.

HYPERKALEMIC PERIODIC PARALYSIS Is also known as adynamia episodica hereditaria|hypp|familial hyperkalemic periodic paralysis|hyperkpp|gamstorp disease|familial hyperpp|gamstorp episodic adynamy|hyperpp|hyperkalemic pp|primary hyperpp|primary hyperkalemic periodic paralysis

Related symptoms:

  • Flexion contracture
  • Skeletal muscle atrophy
  • Gait disturbance
  • Respiratory insufficiency
  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about HYPERKALEMIC PERIODIC PARALYSIS

Low match CAP MYOPATHY


Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.

CAP MYOPATHY Is also known as cap disease

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • High palate
  • Motor delay
  • Myopathy


SOURCES: MESH ORPHANET MENDELIAN

More info about CAP MYOPATHY

Low 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

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I


Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I Is also known as lgmdr9|lgmd2i|muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related|muscular dystrophy, limb-girdle, autosomal recessive 9|limb-girdle muscular dystrophy due to fkrp deficiency|muscular dystrophy, limb-girdle, type 2i

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Respiratory insufficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I

Low match X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY


X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.

X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY Is also known as xmpma

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Ptosis
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY

Top 5 symptoms//phenotypes associated to Congestive heart failure and Gait disturbance

Symptoms // Phenotype % cases
Respiratory insufficiency Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Gait disturbance. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Myopathy Muscular dystrophy Dilated cardiomyopathy Skeletal muscle atrophy Motor delay Cardiomyopathy Dysarthria Scapular winging Dysphagia Arrhythmia Hyperlordosis EMG abnormality Limb-girdle muscle weakness Scoliosis Proximal muscle weakness Frequent falls Difficulty walking Falls Ataxia Myalgia Toe walking Difficulty climbing stairs

Rare Symptoms - Less than 30% cases


Poor head control Respiratory failure Hypertrophic cardiomyopathy Reduced muscle fiber alpha dystroglycan Hypertension Left ventricular failure Difficulty running Achilles tendon contracture Respiratory insufficiency due to muscle weakness Rigidity Congenital muscular dystrophy Gowers sign Spinal rigidity Thoracic scoliosis Axial muscle weakness Ophthalmoparesis Chest pain Waddling gait Skeletal muscle hypertrophy Calf muscle hypertrophy Limb-girdle muscular dystrophy Generalized amyotrophy Reduced tendon reflexes Babinski sign Chorea Hyperreflexia Neuronal loss in central nervous system Hypertonia Feeding difficulties Sinus tachycardia Abnormality of muscle fibers Reduced systolic function Fatiguable weakness of proximal limb muscles Sensorineural hearing impairment Fatigue Peripheral neuropathy Central hypoventilation Intellectual disability, severe Abnormality of cardiovascular system morphology Encephalopathy Dyspnea Hyporeflexia Mental deterioration Pes valgus Lower limb amyotrophy Febrile seizures Pes planus Pulmonary edema Disinhibition Primitive reflex Perseveration Bulimia Semantic dementia High palate Pectus excavatum Facial palsy Aortic root aneurysm Lower limb muscle weakness Long face Mitral valve prolapse Lumbar hyperlordosis Easy fatigability Nasal speech Increased variability in muscle fiber diameter Dysmetria Increased serum lactate Ragged-red muscle fibers Exercise intolerance Dilatation Exercise-induced myoglobinuria Abnormality of the Achilles tendon Thigh hypertrophy Reduced muscle fiber merosin Pain Ptosis Short neck Ventricular hypertrophy Diaphragmatic weakness Left ventricular hypertrophy Dysphonia Back pain Rimmed vacuoles Stiff neck Scapuloperoneal weakness Limited neck flexion Nocturnal hypoventilation Pelvic girdle muscle weakness Abnormal lower motor neuron morphology Increased adipose tissue Slurred speech Multiple lipomas Progressive sensorineural hearing impairment Progressive external ophthalmoplegia Mild global developmental delay Lower limb pain Increased serum pyruvate Kyphosis Restrictive deficit on pulmonary function testing Areflexia Kyphoscoliosis Muscle cramps Macroglossia Abnormal lung morphology Restrictive ventilatory defect Vertebral fusion Shoulder girdle muscle weakness Supranuclear gaze palsy Global brain atrophy Frontotemporal dementia Anxiety Involuntary movements Neck muscle weakness Choreoathetosis Dyskinesia Abnormality of movement Unsteady gait Muscular hypotonia of the trunk Myoclonus Resting tremor EMG: myopathic abnormalities Dystonia Tremor Intellectual disability Rhabdomyolysis Gait instability, worse in the dark Myoglobinuria Delayed gross motor development Cachexia Exercise-induced myalgia Limb muscle weakness Muscular hypotonia Failure to thrive Growth delay Global developmental delay Facial myokymia Paroxysmal dyskinesia Narrow chest Abnormality of the foot Limb hypertonia Joint hyperflexibility Talipes Limitation of joint mobility Decreased fetal movement Myocardial infarction Orofacial dyskinesia Severe muscular hypotonia Myokymia Distal sensory impairment of all modalities Abnormal myocardium morphology Insomnia Distal sensory impairment Periodic hyperkalemic paralysis Spasticity Cognitive impairment Edema Cerebral atrophy Dementia Cerebral cortical atrophy Aggressive behavior Malignant hyperthermia Stereotypy Apathy Personality changes Emotional lability Amyotrophic lateral sclerosis Agitation Talipes equinovarus Episodic flaccid weakness Bowel incontinence Distal sensory loss of all modalities Feeding difficulties in infancy Tip-toe gait Calf muscle pseudohypertrophy Limb-girdle muscle atrophy Limited shoulder movement Positive Romberg sign Absent muscle fiber alpha sarcoglycan Sensory ataxia Paresthesia Hyperkalemia Peripheral demyelination Fasciculations Cerebral palsy Hypokalemia Hyponatremia Myotonia Gliosis Abnormal cerebellum morphology Hip flexor weakness



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