Congestive heart failure, and Proximal muscle weakness

Diseases related with Congestive heart failure and Proximal muscle weakness

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


Top matches:

Medium match CARDIOMYOPATHY, DILATED, 1X; CMD1X


CARDIOMYOPATHY, DILATED, 1X; CMD1X Is also known as cardiomyopathy, dilated, with mild or no proximal muscle weakness

Related symptoms:

  • Seizures
  • Cardiomyopathy
  • Congestive heart failure
  • Elevated serum creatine phosphokinase
  • Dyspnea


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1X; CMD1X

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W


Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W Is also known as lgmd2w

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Talipes equinovarus
  • Cardiomyopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MENDELIAN

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

Medium match EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5


Related symptoms:

  • Muscle weakness
  • Ptosis
  • Respiratory insufficiency
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5

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Other less relevant matches:

Medium match HYPOKALEMIC PERIODIC PARALYSIS


Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.

HYPOKALEMIC PERIODIC PARALYSIS Is also known as westphall disease

Related symptoms:

  • Paralysis
  • EMG abnormality
  • Myotonia
  • Mildly elevated creatine phosphokinase
  • Adrenocortical adenoma


SOURCES: ORPHANET MENDELIAN

More info about HYPOKALEMIC PERIODIC PARALYSIS

Medium match DESMINOPATHY


Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.

DESMINOPATHY Is also known as desmin-related myofibrillar myopathy

Related symptoms:

  • Cardiomyopathy
  • Diarrhea
  • Arrhythmia
  • Constipation
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about DESMINOPATHY

Medium match CARDIOMYOPATHY, DILATED, 1S; CMD1S


Related symptoms:

  • Muscle weakness
  • Ventriculomegaly
  • Cardiomyopathy
  • Myopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1S; CMD1S

Medium match MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB


MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB Is also known as myopathy, hyaline body, autosomal recessive

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • High palate
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB

Medium 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

Medium 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

Medium 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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Proximal muscle weakness

Symptoms // Phenotype % cases
Dilated cardiomyopathy Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Muscular dystrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Proximal muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scapular winging Respiratory insufficiency Calf muscle hypertrophy Limb-girdle muscular dystrophy Difficulty climbing stairs Toe walking Reduced systolic function Frequent falls Hypertrophic cardiomyopathy Myopathy Scoliosis EMG: myopathic abnormalities

Rare Symptoms - Less than 30% cases


Generalized hypotonia Motor delay Left bundle branch block Atrial fibrillation Facial palsy Long face Reduced muscle fiber alpha dystroglycan Gowers sign Left ventricular failure Achilles tendon contracture Thoracic scoliosis Late-onset proximal muscle weakness Waddling gait Falls Hyperlordosis Difficulty walking High palate Respiratory failure Difficulty running Lower limb muscle weakness Mildly elevated creatine phosphokinase Abnormality of muscle fibers Ventricular hypertrophy Congenital muscular dystrophy Progressive muscle weakness Skeletal muscle atrophy Arrhythmia Macroglossia Diaphragmatic weakness Pelvic girdle muscle weakness Central hypoventilation Restrictive deficit on pulmonary function testing Rhabdomyolysis Myoglobinuria Limb-girdle muscle weakness Vertebral fusion Shoulder girdle muscle weakness Unsteady gait Nocturnal hypoventilation Exercise-induced myoglobinuria Flexion contracture Scapuloperoneal weakness Civatte bodies Scapuloperoneal amyotrophy Reduced vital capacity Type 1 muscle fiber predominance Centrally nucleated skeletal muscle fibers Abnormality of the Achilles tendon Thigh hypertrophy Exercise-induced myalgia Abnormal myocardium morphology Pes valgus Lumbar hyperlordosis Lower limb amyotrophy Aortic root aneurysm Sinus tachycardia Generalized amyotrophy Increased variability in muscle fiber diameter Nasal speech Easy fatigability Fatiguable weakness of proximal limb muscles Poor head control Reduced tendon reflexes Kyphosis Mitral valve prolapse Restrictive ventilatory defect Pes planus Pectus excavatum Kyphoscoliosis Myalgia Muscle cramps Absent muscle fiber alpha sarcoglycan Abnormal lung morphology Limited shoulder movement Limb-girdle muscle atrophy Calf muscle pseudohypertrophy Tip-toe gait Seizures Left ventricular noncompaction Myopathic facies Postprandial hyperglycemia Ventricular tachycardia Sudden cardiac death Distal muscle weakness Constipation Diarrhea Episodic hypokalemia Fatigable weakness of respiratory muscles Episodic flaccid weakness Respiratory paralysis Exercise-induced muscle fatigue Increased intramyocellular lipid droplets Periodic hypokalemic paresis Impaired myocardial contractility Adrenocortical adenoma Atrioventricular block Myotonia EMG abnormality Paralysis Proximal amyotrophy Left ventricular hypertrophy Limb muscle weakness Ptosis Triangular tongue Increased connective tissue Progressive proximal muscle weakness Tetraparesis Talipes equinovarus Reduced ejection fraction Dyspnea Respiratory insufficiency due to muscle weakness Right bundle branch block Short stature Bicuspid aortic valve Ebstein anomaly of the tricuspid valve ST segment depression Pulmonary artery hypoplasia Left ventricular noncompaction cardiomyopathy Aortic arch aneurysm Cardiogenic shock First degree atrioventricular block Abnormal left ventricle morphology T-wave inversion Pulmonary artery stenosis Pulmonary embolism Coronary artery atherosclerosis Tricuspid regurgitation Ventricular arrhythmia Shock Bulbar palsy Pulmonary arterial hypertension Coarctation of aorta Pulmonic stenosis Stroke Dilatation Ventriculomegaly Trifascicular block Restrictive heart failure Left anterior fascicular block Abnormal levels of creatine kinase in blood Hyporeflexia of lower limbs Right ventricular cardiomyopathy Skeletal myopathy Neck muscle weakness Reduced muscle fiber merosin



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