Arthritis, and Muscular dystrophy

Diseases related with Arthritis and Muscular dystrophy

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


Top matches:

Low match HEMOPHILIA A; HEMA


Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease (OMIM ), in which mucosal bleeding predominates (review by Mannucci and Tuddenham, 2001).

HEMOPHILIA A; HEMA Is also known as hemophilia, classic

Related symptoms:

  • Pain
  • Anemia
  • Flexion contracture
  • Peripheral neuropathy
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOPHILIA A; HEMA

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


Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2R Is also known as autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency|lgmd2r

Related symptoms:

  • Muscular dystrophy


SOURCES: ORPHANET MENDELIAN

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

Low match EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7


Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011).For a discussion of genetic heterogeneity of EDMD, see {310300}.

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Cardiomyopathy
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: OMIM MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND


Related symptoms:

  • Cardiomyopathy
  • Hyperkeratosis
  • Scarring
  • Muscular dystrophy
  • Papule


SOURCES: OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND

Low match FATAL INFANTILE HYPERTONIC MYOFIBRILLAR MYOPATHY


Fatal infantile hypertonic myofibrillar myopathy is a rare, genetic skeletal muscle disease characterized by muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death.

FATAL INFANTILE HYPERTONIC MYOFIBRILLAR MYOPATHY Is also known as mfm, fatal infantile hypertonic, alpha-b crystallin-related

Related symptoms:

  • Seizures
  • Flexion contracture
  • Respiratory insufficiency
  • Myopathy
  • Hypertonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about FATAL INFANTILE HYPERTONIC MYOFIBRILLAR MYOPATHY

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


Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Q Is also known as muscular dystrophy, limb-girdle, type 2q|lgmd2q|autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM ORPHANET MENDELIAN

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

Low match EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4


EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4 Is also known as emery-dreifuss muscular dystrophy 4 with variable features

Related symptoms:

  • Generalized hypotonia
  • Flexion contracture
  • Motor delay
  • Talipes equinovarus
  • Elevated serum creatine phosphokinase


SOURCES: MESH OMIM MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4

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


Autosomal recessive limb-girdle muscular dystrophy-21 (LGMDR21) is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy (summary by Servian-Morilla et al., 2016).For a discussion of genetic heterogeneity of autosomal recessive LGMD, see LGMDR1 (OMIM ).

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Z Is also known as lgmd2z|muscular dystrophy, limb-girdle, type 2z

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Respiratory insufficiency
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MENDELIAN

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

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


Autosomal recessive limb-girdle muscular dystrophy type 2Y is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Y Is also known as autosomal recessive muscular dystrophy due to lap1b deficiency|lgmd2y|autosomal recessive muscular dystrophy due to torsin-1a-interacting protein 1 deficiency|muscular dystrophy with progressive weakness, distal contractures and rigid spine|muscular dystr

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Rigidity


SOURCES: OMIM ORPHANET MENDELIAN

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

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


Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P Is also known as muscular dystrophy, limb-girdle, type 2p|muscular dystrophy, limb-girdle, autosomal recessive 16|muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related|lgmdr16|lgmd2p

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Flexion contracture
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

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

Top 5 symptoms//phenotypes associated to Arthritis and Muscular dystrophy

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Limb-girdle muscular dystrophy Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Arthritis and Muscular dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Motor delay

Rare Symptoms - Less than 30% cases


Neck muscle weakness Cardiomyopathy Progressive muscle weakness Myopathy Proximal amyotrophy Gowers sign Lower limb muscle weakness Lumbar hyperlordosis Hyperlordosis Respiratory insufficiency Limb muscle weakness Rigidity Ankle contracture Distal muscle weakness Generalized muscle weakness Generalized hypotonia Difficulty climbing stairs Delayed speech and language development Intellectual disability, severe Difficulty walking Falls Global developmental delay Unsteady gait Waddling gait Skeletal muscle atrophy Limb-girdle muscle weakness Hypoglycosylation of alpha-dystroglycan Myofibrillar myopathy Talipes equinovarus Arthrogryposis multiplex congenita Intellectual disability Weak cry Mildly elevated creatine phosphokinase Skeletal muscle hypertrophy Scapular winging Inability to walk Elbow flexion contracture Scoliosis Limb joint contracture Proximal muscle weakness in lower limbs Bilateral talipes equinovarus Spinal rigidity Rimmed vacuoles Congenital muscular dystrophy Decreased fetal movement Increased endomysial connective tissue Left ventricular septal hypertrophy Pain Muscle stiffness Intracranial hemorrhage Joint hemorrhage Stomatitis Prolonged partial thromboplastin time Dyschromatopsia Abnormality of the elbow Joint swelling Thromboembolism Arthropathy Osteoarthritis Reduced factor VIII activity Gastrointestinal hemorrhage Hematuria Bruising susceptibility Stroke Arthralgia Blindness Peripheral neuropathy Spontaneous hematomas Intraventricular hemorrhage Apnea Nail dystrophy Respiratory failure Hypertonia Anemia Seizures Plantar hyperkeratosis Skin vesicle Abnormal blistering of the skin Pruritus Papule Persistent bleeding after trauma Scarring Hyperkeratosis Bradycardia Atrial fibrillation Arrhythmia Splenic rupture Bleeding with minor or no trauma Oral cavity bleeding Intramuscular hematoma Tonsillitis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Hypopigmentation of the skin, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more