Hyperreflexia, and Limb-girdle muscular dystrophy

Diseases related with Hyperreflexia and Limb-girdle muscular dystrophy

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Limb-girdle muscular dystrophy that can help you solving undiagnosed cases.

Top matches:

Miyoshi muscular dystrophy is an autosomal recessive skeletal muscle disorder characterized by onset in young adulthood of distal muscle weakness affecting the upper and lower limbs but sparing the intrinsic hand muscles. Muscle weakness and atrophy particularly affects the gastrocnemius and soleus muscles, and can later spread to involve the thigh and gluteal muscles. Patients showed impaired tiptoe standing, difficulty in climbing stairs, and difficulty walking, but usually remain ambulatory. Serum creatine kinase is increased and muscle biopsies show myopathic and dystrophic changes with necrosis (summary by Miyoshi et al., 1986). Genetic Heterogeneity of Miyoshi Muscular DystrophyMiyoshi muscular dystrophy is a genetically heterogeneous disorder: MMD2 (OMIM ) has been mapped to chromosome 10p, and MMD3 (OMIM ) is caused by mutation in the ANO5 gene (OMIM ) on chromosome 11p14.See also Welander myopathy (OMIM ), an autosomal dominant form of late-onset distal myopathy.

MIYOSHI MUSCULAR DYSTROPHY 1; MMD1 Is also known as muscular dystrophy, distal, late-onset, autosomal recessive|miyoshi myopathy

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Difficulty walking


SOURCES: OMIM MENDELIAN

More info about MIYOSHI MUSCULAR DYSTROPHY 1; MMD1

Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2G Is also known as lgmd2g|limb-girdle muscular dystrophy due to telethonin deficiency|muscular dystrophy, limb-girdle, type 2g

Related symptoms:

  • Skeletal muscle atrophy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Difficulty walking
  • Muscular dystrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

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

Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 3 Is also known as muscular atrophy, juvenile|sma3|spinal muscular atrophy, mild childhood and adolescent form|kugelberg-welander syndrome|sma iii|kugelberg-welander disease|sma-iii|juvenile spinal muscular atrophy|sma type 3|sma type iii|kws

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Hyporeflexia
  • Proximal muscle weakness
  • Muscular dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 3

Other less relevant matches:

Autosomal dominant limb-girdle muscular dystrophy type 1G (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1G Is also known as lgmd1g|muscular dystrophy, limb-girdle, type 1g

Related symptoms:

  • Muscle weakness
  • Cataract
  • Myopathy
  • Hyporeflexia
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1G

The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular dystrophy in the distribution of muscle wasting and weakness, which is mainly proximal, but the course is more benign, with age of onset around 12 years; some patients have no symptoms until much later in life. Loss of ambulation also varies from adolescence onward, with death usually in the fourth or fifth decade. In some cases, as in Duchenne muscular dystrophy, a degree of mental impairment is present (Emery, 2002).As in DMD, about 5 to 10% of female carriers of this X-linked disorder show muscle weakness, and frequently enlarged calves--so-called manifesting heterozygotes. Such weakness is often asymmetric; it can develop in childhood or not become evident until adult life, and can be slowly progressive or remain static. Because weakness is essentially proximal, differentiation from limb-girdle muscular dystrophy is essential for genetic counseling. In both DMD and BMD, female carriers may develop dilated cardiomyopathy in the absence of apparent weakness (Grain et al., 2001).

MUSCULAR DYSTROPHY, BECKER TYPE; BMD Is also known as muscular dystrophy, pseudohypertrophic progressive, becker type|becker muscular dystrophy

Related symptoms:

  • Muscle weakness
  • Cognitive impairment
  • Skeletal muscle atrophy
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY, BECKER TYPE; BMD

Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.

DISTAL MYOTILINOPATHY Is also known as muscular dystrophy, limb-girdle, type 1, formerly|lgmd1, formerly|lgmd1a, formerly|myopathy, myofibrillar, myotilin-related|muscular dystrophy, limb-girdle, type 1a, formerly|myotilinopathy

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DISTAL MYOTILINOPATHY

Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D Is also known as lgmd1d|lgmd1e|muscular dystrophy, limb-girdle, type 1d, formerly|muscular dystrophy, limb-girdle, type 1e|lgmd1d, formerly

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Dysarthria
  • Dysphagia
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D

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

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

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

Top 5 symptoms//phenotypes associated to Hyperreflexia and Limb-girdle muscular dystrophy

Symptoms // Phenotype % cases
Muscular dystrophy Very Common - Between 80% and 100% cases
Muscle weakness Very Common - Between 80% and 100% cases
Myopathy 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

Other less frequent symptoms

Patients with Hyperreflexia and Limb-girdle muscular dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Skeletal muscle atrophy

Uncommon Symptoms - Between 30% and 50% cases

Hyporeflexia Flexion contracture Lower limb muscle weakness Limb muscle weakness Myalgia Calf muscle hypertrophy Difficulty climbing stairs Rimmed vacuoles Cardiomyopathy Generalized hypotonia Areflexia Dilated cardiomyopathy Progressive proximal muscle weakness Muscle cramps Talipes equinovarus Generalized muscle weakness Waddling gait Difficulty walking Distal muscle weakness Distal amyotrophy

Rare Symptoms - Less than 30% cases

Reduced tendon reflexes Autophagic vacuoles Myopathic facies Peripheral neuropathy Dysarthria Dysphagia Respiratory insufficiency Mildly elevated creatine phosphokinase Centrally nucleated skeletal muscle fibers Arthrogryposis multiplex congenita Myofibrillar myopathy Pes cavus Polyhydramnios Cognitive impairment Dyspnea Facial palsy Gowers sign Fatty replacement of skeletal muscle Muscular hypotonia Motor delay Spinal rigidity Hyperlordosis Exercise intolerance Decreased fetal movement Pelvic girdle muscle weakness Increased variability in muscle fiber diameter Proximal lower limb amyotrophy Proximal upper limb amyotrophy Areflexia of lower limbs Foot dorsiflexor weakness Shoulder girdle muscle weakness Congestive heart failure Malignant hyperthermia Edema Hepatomegaly Hypertension Failure to thrive Reduced muscle fiber merosin Ophthalmoparesis Muscle fiber hypertrophy Moderately reduced ejection fraction Hypoglycosylation of alpha-dystroglycan Talipes Abnormal glycosylation Neck flexor weakness Wolff-Parkinson-White syndrome Nemaline bodies Motor deterioration Type 1 muscle fiber predominance Skeletal myopathy Generalized limb muscle atrophy Generalized amyotrophy Stooped posture Skeletal muscle hypertrophy Infantile muscular hypotonia Congenital hip dislocation Hip dislocation Hepatosplenomegaly Hepatic fibrosis Global developmental delay Seizures Limb joint contracture Tubulointerstitial fibrosis Generalized edema Esophageal varix Fetal akinesia sequence Cleft palate Exertional dyspnea Feeding difficulties Akinesia Portal hypertension Decreased liver function Hydrops fetalis Scoliosis Scapular winging Fever Intrauterine growth retardation Fatigue Kyphoscoliosis Sudden cardiac death Ascites Hepatic failure Cirrhosis Pes planus Neonatal hypotonia Hypertrophic cardiomyopathy Abnormality of the liver Difficulty running Weakness of the intrinsic hand muscles Frequent falls Degeneration of anterior horn cells Rhabdomyolysis Hypocalcemia Cardiac arrest Muscle fiber necrosis Arrhythmia Behavioral abnormality Inflammatory myopathy Flexion limitation of toes Decreased movement range in interphalangeal joints Diabetes mellitus Cataract Limb fasciculations Lower limb amyotrophy Tongue fasciculations Myoglobinuria Abnormal lower motor neuron morphology Decreased/absent ankle reflexes Hand tremor Spinal muscular atrophy EMG abnormality Fasciculations Decreased Achilles reflex Deposits immunoreactive to beta-amyloid protein Proximal muscle weakness in upper limbs Proximal muscle weakness in lower limbs Increased connective tissue Distal lower limb muscle weakness Distal lower limb amyotrophy Abnormal EKG Calf muscle pseudohypertrophy Lumbar hyperlordosis Myositis Tachycardia Falls Pectus excavatum Hydrocephalus Growth delay Skeletal muscle fibrosis Hyposegmentation of neutrophil nuclei Proximal amyotrophy Percussion myotonia Abnormality of muscle fibers Loss of ability to walk Muscle fiber splitting Bulbar signs Spinal canal stenosis Recurrent myoglobinuria Bulbar palsy Dysphonia Muscle fiber cytoplasmatic inclusion bodies Progressive distal muscle weakness Hyporeflexia of lower limbs Achilles tendon contracture Muscle stiffness Toe walking Polyneuropathy Pneumonia Muscle fibrillation Red-brown urine Acute rhabdomyolysis Minicore myopathy


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