Myopathy, and Camptodactyly

Diseases related with Myopathy and Camptodactyly

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

Top matches:

Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A Is also known as lgmd2a|muscular dystrophy, limb-girdle, type 1i|lgmd1i|limb-girdle muscular dystrophy due to calpain deficiency|primary calpainopathy

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: OMIM ORPHANET MENDELIAN

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

Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

Other less relevant matches:

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

EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.

NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA Is also known as amc, neurogenic type

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Flexion contracture
  • Skeletal muscle atrophy
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA

Distal myopathy, Welander type (WDM) is a distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.

DISTAL MYOPATHY, WELANDER TYPE Is also known as wdm

Related symptoms:

  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MYOPATHY, WELANDER TYPE

Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

BETHLEM MYOPATHY Is also known as ullrich scleroatonic muscular dystrophy|benign autosomal dominant myopathy|ullrich disease|ullrich congenital muscular dystrophy|muscular dystrophy, scleroatonic|ucmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BETHLEM MYOPATHY

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

SHELDON-HALL SYNDROME Is also known as arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities|sheldon-hall syndrome|shs|distal arthrogryposis type 2b|fssv|arthrogryposis multiplex congenita, distal, type 2b|freeman-sheldon syndrome variant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHELDON-HALL SYNDROME

Top 5 symptoms//phenotypes associated to Myopathy and Camptodactyly

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Talipes equinovarus Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
High palate Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Myopathy and Camptodactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Camptodactyly of finger Motor delay Congenital contracture Growth delay Hypertelorism Neonatal hypotonia Protruding ear Decreased fetal movement Generalized muscle weakness Muscular dystrophy Kyphoscoliosis Respiratory failure Generalized hypotonia Facial palsy Elevated serum creatine phosphokinase Arthrogryposis multiplex congenita Talipes Adducted thumb Respiratory insufficiency due to muscle weakness Multiple joint contractures Skeletal muscle atrophy Feeding difficulties Scarring Joint stiffness Micrognathia Proximal muscle weakness Congenital hip dislocation Ankle contracture Hip dislocation Elbow flexion contracture Failure to thrive Limb-girdle muscular dystrophy

Rare Symptoms - Less than 30% cases

Abnormal facial shape Torticollis Pain Congenital muscular torticollis Global developmental delay Mildly elevated creatine phosphokinase Triangular face Paralysis Rigidity Bilateral talipes equinovarus Short stature Hyperkeratosis Respiratory distress Congenital muscular dystrophy Diaphragmatic paralysis Facial asymmetry Arachnodactyly Hernia Round face Narrow mouth Spinal rigidity Difficulty climbing stairs Long philtrum Areflexia Polyhydramnios Downslanted palpebral fissures Rocker bottom foot Aplasia/Hypoplasia of the radius Myalgia Overlapping fingers Follicular hyperkeratosis Abnormality of the hip bone Joint contracture of the hand Abnormality of cardiovascular system morphology Pachygyria Craniosynostosis Short nose Growth hormone deficiency Feeding difficulties in infancy Hypoplasia of the musculature Facial hypotonia Fragile skin Abnormality of the lower limb Kyphosis Micromelia Joint laxity Hip dysplasia Hyperhidrosis Abnormality of the upper limb Respiratory insufficiency Abnormality of mesentery morphology Oligohydramnios Abnormality of calvarial morphology Gastric ulcer Hemiplegia/hemiparesis Abnormality of the shoulder Skin dimples Intestinal atresia Maternal diabetes Nocturnal hypoventilation EMG abnormality Vertebral segmentation defect Cleft lip Prominent nasal bridge Abnormality of the foot Webbed neck Narrow face Bilateral single transverse palmar creases Short chin Narrow palpebral fissure Metatarsus adductus Abnormality of the ear Posteriorly rotated ears Tarsal synostosis Ulnar deviation of finger Distal arthrogryposis Trismus Calcaneovalgus deformity Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of the wrist Prominent nasolabial fold Round ear Mandibular prognathia Severe short stature Lissencephaly Muscle fiber necrosis Cachexia Abnormality of mitochondrial metabolism Increased variability in muscle fiber diameter Generalized amyotrophy Progressive proximal muscle weakness Recurrent lower respiratory tract infections Proximal amyotrophy Type 1 muscle fiber predominance Slender build Hyperextensible skin Malar flattening Impaired mastication Hyperextensibility at wrists Increased laxity of fingers Increased laxity of ankles Hearing impairment Ptosis Epicanthus Wide nasal bridge Short neck Patent foramen ovale Respiratory tract infection Delayed gross motor development Thin upper lip vermilion Fetal akinesia sequence Oval face Low-set ears Depressed nasal bridge Hypertension Intrauterine growth retardation Anteverted nares Pulmonary hypoplasia Akinesia Pterygium Ankylosis Cardiorespiratory arrest Preeclampsia Ulnar deviation of the hand Thoracic kyphoscoliosis Abnormality of the diaphragm Short umbilical cord Scaphocephaly Poor suck Cardiomyopathy Muscle fiber splitting Gait disturbance Difficulty walking Hyperlordosis Lower limb muscle weakness Scapular winging Back pain Toe walking Calf muscle hypertrophy Wrist flexion contracture Single transverse palmar crease Hamstring contractures Congenital finger flexion contractures Scapular muscle atrophy Pelvic girdle amyotrophy Pectoralis amyotrophy Small for gestational age Dolichocephaly High, narrow palate Abnormality of the skeletal system Distal muscle weakness Joint dislocation Inguinal hernia Difficulty running Increased connective tissue Respiratory arrest Increased endomysial connective tissue Frontal bossing Cerebral atrophy Midface retrusion Brachycephaly Long fingers Arthralgia Telecanthus Joint hypermobility Bruising susceptibility Mitral valve prolapse Blue sclerae Mitral regurgitation Dental crowding Bulbar palsy Restrictive ventilatory defect Papule Muscular hypotonia Abnormality of the cardiovascular system Progressive muscle weakness Limb-girdle muscle weakness Abnormality of the mitochondrion Limb-girdle muscle atrophy Necrotizing myopathy Plantar flexion contractures Seizures Cleft palate Nasal speech Dysphagia Pectus excavatum Encephalopathy Hyporeflexia Gastroesophageal reflux Recurrent pneumonia Severe muscular hypotonia Poor head control Absent phalangeal crease


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