Cardiomyopathy, and Pes cavus

Diseases related with Cardiomyopathy and Pes cavus

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


Top matches:

Medium match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 WITH GIANT AXONS


Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons is a rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/arreflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 WITH GIANT AXONS Is also known as cmt2 with giant axons|hmsn2 with giant axons|autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Gait disturbance
  • Cardiomyopathy
  • Areflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 WITH GIANT AXONS

Medium match MYOPATHY, DISTAL, 1; MPD1


MYOPATHY, DISTAL, 1; MPD1 Is also known as myopathy, late distal hereditary|laing distal myopathy|myopathy, distal, early-onset, autosomal dominant

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • High palate
  • Tremor
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, DISTAL, 1; MPD1

Medium match NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE; NEM11


NEM11 is an autosomal recessive congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade. Affected individuals present with gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck. Muscle biopsy shows nemaline bodies. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure (summary by Miyatake et al., 2017).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).

Related symptoms:

  • Muscle weakness
  • High palate
  • Gait disturbance
  • Dysphagia
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE; NEM11

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Other less relevant matches:

Medium match MUSCULAR DYSTROPHY, SELCEN TYPE


Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Abnormality of the skeletal system


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUSCULAR DYSTROPHY, SELCEN TYPE

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


Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M Is also known as muscular dystrophy, limb-girdle, autosomal recessive 13|lgmdr13|muscular dystrophy, limb-girdle, type 2m|lgmd2m

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM ORPHANET MESH MENDELIAN

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

Medium 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

Medium 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

Medium 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

Medium match ATAXIA WITH VITAMIN E DEFICIENCY


Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

ATAXIA WITH VITAMIN E DEFICIENCY Is also known as familial isolated vitamin e deficiency|aved|ataxia with isolated vitamin e deficiency|isolated vitamin e deficiency|friedreich-like ataxia|ataxia, friedreich-like, with selective vitamin e deficiency

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ATAXIA WITH VITAMIN E DEFICIENCY

Medium match PEROXISOME BIOGENESIS DISORDER 9B; PBD9B


While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1 ), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (OMIM ) and patients carried this diagnosis.Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.

PEROXISOME BIOGENESIS DISORDER 9B; PBD9B Is also known as refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 9B; PBD9B

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Pes cavus

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Proximal muscle weakness Skeletal muscle atrophy Hypertrophic cardiomyopathy Hyporeflexia Myopathy Scapular winging Flexion contracture Polyneuropathy Dilated cardiomyopathy Spinal rigidity Pectus excavatum Waddling gait Muscular dystrophy Gowers sign Tremor Facial palsy Arrhythmia Steppage gait Hammertoe Sensory neuropathy Distal sensory impairment Ataxia Areflexia Distal muscle weakness

Rare Symptoms - Less than 30% cases


Blindness Diabetes mellitus Limb muscle weakness Nyctalopia Lower limb muscle weakness Paralysis Mitral regurgitation EMG: myopathic abnormalities Toe walking Hearing impairment Visual loss Rod-cone dystrophy Ichthyosis Growth delay Muscular hypotonia Hyperlordosis Lumbar hyperlordosis Reduced tendon reflexes Limb-girdle muscular dystrophy Skeletal muscle hypertrophy Intellectual disability Increased LDL cholesterol concentration Kyphosis Congestive heart failure Heart block Hypertriglyceridemia Difficulty walking Generalized amyotrophy Respiratory insufficiency High palate Rimmed vacuoles Sensory impairment Distal amyotrophy Decreased motor nerve conduction velocity Talipes equinovarus Calf muscle hypertrophy Atrioventricular block Abnormality of the foot Myalgia Onion bulb formation Everted lower lip vermilion Prominent nose Short 5th metacarpal Wide nose Ventricular hypertrophy Joint contracture of the hand Abnormality of visual evoked potentials Distal lower limb amyotrophy Congenital hip dislocation Anosmia Synophrys Prominent supraorbital ridges Abnormality of the voice Hallux valgus Broad palm Sensorimotor neuropathy Calcific stippling Downslanted palpebral fissures Hip dislocation Ulnar claw Decreased number of peripheral myelinated nerve fibers Upper limb undergrowth Abnormal pupil morphology Motor polyneuropathy Spinal deformities Polyneuritis Neuritis Limb tremor Hypertrophic nerve changes Retrognathia Myelin outfoldings Tonic pupil Chronic sensorineural polyneuropathy Trophic changes related to pain Cold-induced muscle cramps Low-set ears Limited elbow movement Posteriorly rotated ears Eclabion Camptodactyly of toe Brachyturricephaly Slurred speech Cataract Neurological speech impairment Sensorineural hearing impairment Malabsorption Decreased nerve conduction velocity Dysmetria Abnormality of retinal pigmentation Hypercholesterolemia Dysdiadochokinesis Developmental regression Global developmental delay Seizures Tendon xanthomatosis Vitamin E deficiency Abetalipoproteinemia Xanthelasma Fat malabsorption Hemiplegia/hemiparesis Steatorrhea Abnormal pyramidal sign Mental deterioration Hyperplasia of the maxilla Spasticity Spinocerebellar tract degeneration Progressive pes cavus Broad nail Marked muscular hypertrophy Pugilistic facies Rhizomelia Dislocation of toes Nystagmus Progressive visual loss Visual impairment Abnormality of the nervous system Congenital cataract Dysarthria Retinopathy Hypertonia Autistic behavior Skeletal dysplasia Dystonia Autism Cognitive impairment Axonal degeneration Back pain Foot dorsiflexor weakness Impaired vibratory sensation Nemaline bodies Reduced vital capacity Abnormality of the skeletal system Gait ataxia Abnormal lung morphology Knee flexion contracture Easy fatigability Nasal speech Restrictive ventilatory defect Myopathic facies Axonal loss Thoracic scoliosis Demyelinating peripheral neuropathy Restrictive cardiomyopathy Myofibrillar myopathy Skeletal myopathy Muscle fiber splitting Diaphragmatic paralysis Generalized hypotonia Hypokinesia Poor head control Hydrocephalus EMG: neuropathic changes Peripheral axonal neuropathy EMG: chronic denervation signs Impaired distal vibration sensation Peroneal muscle weakness Impaired distal tactile sensation Ragged-red muscle fibers Mildly elevated creatine phosphokinase Neck muscle weakness Type 1 muscle fiber predominance Progressive muscle weakness Abnormality of the mitochondrion Left atrial enlargement Weakness of long finger extensor muscles Amyotrophy of ankle musculature Toe extensor amyotrophy Dysphagia Respiratory failure Ophthalmoplegia Generalized muscle weakness Motor delay Falls Chronic diarrhea Type 1 muscle fiber atrophy Achilles tendon contracture Proximal muscle weakness in lower limbs Supraventricular arrhythmia Atrial arrhythmia Proximal lower limb amyotrophy Proximal muscle weakness in upper limbs Ventricular escape rhythm Proximal upper limb amyotrophy Decreased cervical spine flexion due to contractures of posterior cervical muscles Vocal cord paralysis Absent muscle fiber emerin Pain Optic atrophy Vomiting Diarrhea Kyphoscoliosis Nausea Peripheral demyelination Split hand Abnormality of the neck Progressive proximal muscle weakness Tachycardia Muscle fiber hypertrophy Frequent falls Infantile muscular hypotonia Motor deterioration Wolff-Parkinson-White syndrome Neck flexor weakness Abnormal glycosylation Hypoglycosylation of alpha-dystroglycan Fatty replacement of skeletal muscle Moderately reduced ejection fraction Reduced muscle fiber merosin Sprengel anomaly Ptosis Obesity Joint stiffness Unsteady gait Sudden cardiac death Elbow flexion contracture Respiratory insufficiency due to muscle weakness Lipodystrophy Myotonia Elevated levels of phytanic acid



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