Flexion contracture, and Lower limb muscle weakness

Diseases related with Flexion contracture and Lower limb muscle weakness

In the following list you will find some of the most common rare diseases related to Flexion contracture and Lower limb muscle weakness that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Peripheral neuropathy
  • Fever
  • Skeletal muscle atrophy
  • Lower limb muscle weakness


SOURCES: OMIM MESH MENDELIAN

More info about NEUROPATHY, PAINFUL

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

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

Other less relevant matches:

SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM Is also known as scapuloperoneal myopathy, fhl1-related

Related symptoms:

  • Flexion contracture
  • Skeletal muscle atrophy
  • Myopathy
  • Arrhythmia
  • Hyporeflexia


SOURCES: OMIM MENDELIAN

More info about SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM

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

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

Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016)For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X Is also known as autosomal recessive charcot-marie-tooth disease type 2 due to spg11 mutation|charcot-marie-tooth disease, axonal, autosomal recessive, type 2x|charcot-marie-tooth neuropathy, type 2x|cmt2x|arcmt2x

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Cognitive impairment
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X

CNM6 is an autosomal recessive, slowly progressive congenital myopathy with onset in infancy or early childhood. Patients may be hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness mainly affecting the proximal lower and upper limbs. Other features include scapular winging, scoliosis, and mildly decreased respiratory vital capacity. The phenotype and muscle biopsy abnormalities are variable, although centralized nuclei and fiber-type disproportion appear to be a common finding on muscle biopsy.For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6

Autosomal recessive limb-girdle muscular dystrophy type 2L (LGMD2L) is a form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L Is also known as lgmd2l|muscular dystrophy, limb-girdle, type 2l

Related symptoms:

  • Pain
  • Flexion contracture
  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: MESH ORPHANET OMIM MENDELIAN

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

Top 5 symptoms//phenotypes associated to Flexion contracture and Lower limb muscle weakness

Symptoms // Phenotype % cases
Proximal muscle weakness Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Limb muscle weakness Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Flexion contracture and Lower limb muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scapular winging Skeletal muscle atrophy Muscular dystrophy Ankle contracture Elbow flexion contracture Progressive muscle weakness Hyperlordosis Calf muscle hypertrophy Increased variability in muscle fiber diameter Foot dorsiflexor weakness Limb-girdle muscular dystrophy Rimmed vacuoles Scoliosis Spinal rigidity

Rare Symptoms - Less than 30% cases

Hamstring contractures Areflexia Cardiomyopathy Peripheral neuropathy Wrist flexion contracture Muscle fiber splitting Increased connective tissue Pain Gait disturbance Facial palsy Increased endomysial connective tissue Distal muscle weakness Respiratory insufficiency Waddling gait Proximal muscle weakness in lower limbs Hyporeflexia Myalgia Rigidity Generalized hypotonia Sensory impairment Fasciculations Centrally nucleated skeletal muscle fibers Sensorimotor neuropathy Easy fatigability Motor delay Abnormality of the hand Muscle cramps Sensory axonal neuropathy Dysphagia Fatigue EMG: myopathic abnormalities Abnormality of muscle fibers Myoglobinuria Fatty replacement of skeletal muscle Internally nucleated skeletal muscle fibers EMG: myotonic runs EMG: axonal abnormality Quadriceps muscle atrophy Pelvic girdle muscle atrophy Flexion contracture of finger Upper limb amyotrophy Proximal muscle weakness in upper limbs Genu recurvatum Distal amyotrophy Muscle fiber atrophy Lower limb amyotrophy Pelvic girdle muscle weakness Exercise-induced myalgia Distal lower limb muscle weakness Shoulder girdle muscle weakness EMG: neuropathic changes Distal sensory impairment Toe walking Peripheral axonal neuropathy Scapuloperoneal myopathy Lumbar hyperlordosis Falls Dilated cardiomyopathy Respiratory failure Kyphosis Short neck Scapuloperoneal amyotrophy Respiratory insufficiency due to muscle weakness Myofibrillar myopathy Steppage gait Confusion Arrhythmia Inability to walk Mildly elevated creatine phosphokinase Skeletal muscle hypertrophy Frequent falls Gowers sign Abnormality of the foot Spasticity Kyphoscoliosis Pes cavus Babinski sign Hypoplasia of the corpus callosum Tremor Cognitive impairment Pectoralis amyotrophy Difficulty walking Pelvic girdle amyotrophy Scapular muscle atrophy Congenital finger flexion contractures Difficulty climbing stairs Fever Back pain Generalized muscle weakness Abnormality of the calf musculature


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