Cardiomyopathy, and Kyphosis

Diseases related with Cardiomyopathy and Kyphosis

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


Top matches:

Low match REDUCING BODY MYOPATHY


Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Short neck
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about REDUCING BODY MYOPATHY

Low match MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX


X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015).Danon disease (OMIM ), caused by mutation in the LAMP2 gene (OMIM ) on chromosome Xq24, is a distinct disorder with similar pathologic features.

MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX Is also known as xmea

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX

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

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Other less relevant matches:

Low match BETHLEM MYOPATHY 1; BTHLM1


BETHLEM MYOPATHY 1; BTHLM1 Is also known as muscular dystrophy, benign congenital|bethlem myopathy|myopathy, benign congenital, with contractures

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about BETHLEM MYOPATHY 1; BTHLM1

Low match CENTRAL CORE DISEASE OF MUSCLE; CCD


Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Low match EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1


Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreifuss form (EDMD1) from the Becker form (OMIM ). Genetic Heterogeneity of Emery-Dreifuss Muscular DystrophyAutosomal dominant Emery-Dreifuss muscular dystrophy-2 (EDMD2 ), is caused by mutation in the lamin A/C gene (LMNA ); autosomal recessive EDMD3 (OMIM ) is also caused by mutation in the LMNA gene. Additional autosomal dominant forms include EDMD4 (OMIM ), caused by mutation in the SYNE1 gene (OMIM ), EDMD5 (OMIM ), caused by mutation in the SYNE2 gene (OMIM ), and EDMD7 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ). A second X-linked form (EDMD6; see {300696}) is caused by mutation in the FHL1 gene (OMIM ).

EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 Is also known as emd1|scapuloperoneal syndrome, x-linked, formerly|humeroperoneal neuromuscular disease, formerly|muscular dystrophy, tardive, dreifuss-emery type, with contractures

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1

Low match CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B


Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. Affecting approximately 1 in 2,500 individuals, Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system (Skre, 1974). Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. ClassificationOn the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1, or HMSNI) and primary peripheral axonal (type 2, or HMSNII) neuropathies. The demyelinating neuropathies classified as CMT type 1 are characterized by severely reduced motor NCVs (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy. The axonal neuropathies classified as CMT type 2 are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; {118210}). Distal hereditary motor neuropathy (dHMN) (see {158590}), or spinal CMT, is characterized by exclusive motor involvement and sparing of sensory nerves (Pareyson, 1999).McAlpine (1989) proposed that the forms of CMT with very slow nerve conduction be given the gene symbol CMT1A (OMIM ) and CMT1B, CMT1A being the gene on chromosome 17 and CMT1B being the gene on chromosome 1. CMT2 was the proposed symbol for the autosomal locus responsible for the moderately slow nerve conduction form of the disease (axonal).For a phenotypic description and discussion of genetic heterogeneity of the various subtypes of CMT, see CMTX1 (OMIM ), CMT2A1 (OMIM ), CMT3 (DSS ), CMT4A (OMIM ), and CMTDIB (OMIM ). Genetic Heterogeneity of Autosomal Dominant Demyelinating CMT1Autosomal dominant demyelinating CMT1 is genetically heterogeneous disorder and can be caused by mutations in different genes (see CMT1A, {118220}; CMT1C, {601098}; CMT1D, {607678}), CMT1E (OMIM ), and CMT1F (OMIM ). See also {608236} for a related phenotype characterized by isolated slowed nerve conduction velocities (NCVs).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B Is also known as hmsn1b|charcot-marie-tooth neuropathy, type 1b|charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1b|hereditary motor and sensory neuropathy ib|hereditary motor and sensory neuropathy i|hmsn i|peroneal muscular atrop

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

Low match URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU


URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms

Related symptoms:

  • Scoliosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

Low match AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY


Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Low match X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY


Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Ptosis
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Kyphosis

Symptoms // Phenotype % cases
Scoliosis Very Common - Between 80% and 100% cases
Muscle weakness Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Proximal muscle weakness Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Kyphosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Skeletal muscle atrophy

Uncommon Symptoms - Between 30% and 50% cases


Muscular dystrophy

Common Symptoms - More than 50% cases


Flexion contracture

Uncommon Symptoms - Between 30% and 50% cases


Limb-girdle muscular dystrophy Respiratory insufficiency due to muscle weakness Respiratory insufficiency Hypertrophic cardiomyopathy Hyperlordosis Kyphoscoliosis Motor delay Generalized hypotonia Distal muscle weakness Neonatal hypotonia Spinal rigidity Waddling gait Pes cavus Areflexia Scapular winging Progressive muscle weakness Dilated cardiomyopathy Gowers sign Congestive heart failure Toe walking Proximal muscle weakness in lower limbs Limb-girdle muscle weakness Difficulty walking Elbow flexion contracture Congenital hip dislocation Myotonia Difficulty running Difficulty climbing stairs EMG: myopathic abnormalities Intellectual disability Achilles tendon contracture Ptosis Generalized muscle weakness Limb muscle weakness Rimmed vacuoles Feeding difficulties Respiratory failure

Rare Symptoms - Less than 30% cases


Muscular hypotonia Joint stiffness Hyporeflexia Arrhythmia Pectus excavatum Obesity Gait disturbance Type 1 muscle fiber predominance Rigidity Sudden cardiac death Centrally nucleated skeletal muscle fibers Ophthalmoparesis Hip dislocation Facial palsy Cognitive impairment Ankle contracture Congenital contracture Ichthyosis Reduced tendon reflexes Hypertriglyceridemia Ventricular hypertrophy Absent muscle fiber emerin Decreased cervical spine flexion due to contractures of posterior cervical muscles Type 1 muscle fiber atrophy Proximal upper limb amyotrophy Ventricular escape rhythm Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Increased LDL cholesterol concentration Supraventricular arrhythmia Decreased fetal movement Retrognathia Vocal cord paralysis Heart block Sprengel anomaly Lipodystrophy Back pain Atrioventricular block Short neck Lower limb muscle weakness Talipes equinovarus Falls Myalgia Lumbar hyperlordosis Congenital muscular dystrophy Pelvic girdle muscle weakness Frequent falls Foot dorsiflexor weakness Muscle cramps Global developmental delay Exertional dyspnea High palate Progressive proximal muscle weakness Left ventricular hypertrophy Protruding ear Paralysis Ulnar claw Spinal deformities Bradycardia Axonal degeneration Decreased number of peripheral myelinated nerve fibers Onion bulb formation Proximal amyotrophy Distal lower limb amyotrophy Reduced ejection fraction Upper limb undergrowth Abnormal pupil morphology Motor polyneuropathy Sinus bradycardia Distal lower limb muscle weakness Neuritis Hypertrophic nerve changes Downslanted palpebral fissures Myelin outfoldings Tonic pupil Chronic sensorineural polyneuropathy Trophic changes related to pain Cold-induced muscle cramps Low-set ears Posteriorly rotated ears Peroneal muscle atrophy Synophrys Weakness of facial musculature Pelvic girdle muscle atrophy Peroneal muscle weakness Limb tremor Tip-toe gait Palpitations Feeding difficulties in infancy Atrial fibrillation Pugilistic facies Limited elbow movement Brachyturricephaly Hyperplasia of the maxilla External ophthalmoplegia Camptodactyly of toe Progressive pes cavus Broad nail Marked muscular hypertrophy Dislocation of toes Eclabion Abnormal facial shape Delayed speech and language development Dysarthria Bifid uvula Long face Intellectual disability, mild Ophthalmoplegia Narrow mouth Steppage gait Broad palm Ventriculomegaly Prominent nose Dyspnea EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Axial muscle weakness Facial diplegia Hip contracture Abnormal heart valve morphology Wide nose Everted lower lip vermilion Mitral regurgitation Dysphonia Joint contracture of the hand Prominent supraorbital ridges Long fingers Abnormality of the voice Generalized amyotrophy Skeletal muscle hypertrophy Hallux valgus Bilateral ptosis Decreased motor nerve conduction velocity Atrial arrhythmia Hammertoe Scarring Thigh hypertrophy Reduced muscle fiber alpha dystroglycan Reduced muscle fiber merosin Failure to thrive Abnormality of the skeletal system Respiratory distress Hyperkeratosis Camptodactyly of finger Exercise-induced myoglobinuria Papule Abnormality of the cardiovascular system Torticollis Follicular hyperkeratosis Abnormality of the mitochondrion Diaphragmatic paralysis Congenital muscular torticollis Abnormality of the Achilles tendon Nocturnal hypoventilation Necrotizing myopathy Macroglossia Lethargy Bundle branch block Right bundle branch block Elevated hepatic transaminase Hypoventilation Autophagic vacuoles Limited extraocular movements Increased variability in muscle fiber diameter Diaphragmatic weakness Abnormal lung morphology Calf muscle hypertrophy Restrictive ventilatory defect Vertebral fusion Shoulder girdle muscle weakness Left ventricular failure Restrictive deficit on pulmonary function testing Limb-girdle muscle atrophy Plantar flexion contractures Decreased nerve conduction velocity Abnormality of the foot Peripheral neuropathy Optic atrophy Tremor Blindness Vomiting Diarrhea Diabetes mellitus Nausea Ataxia Distal amyotrophy Distal sensory impairment Sensory neuropathy Polyneuropathy Peripheral demyelination Split hand Chronic diarrhea Pain Hearing impairment Seizures Talipes Cleft palate Fever Intrauterine growth retardation Fatigue Polyhydramnios Pes planus Arthrogryposis multiplex congenita Myopathic facies Abnormality of the neck Malignant hyperthermia Nemaline bodies Skeletal myopathy Generalized limb muscle atrophy Stooped posture Minicore myopathy Unsteady gait Restricted neck movement due to contractures



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